Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred
Gespeichert in:
| Veröffentlicht in: | Prenatal diagnosis 2009-09, Vol.29 (9), p.911-913 |
|---|---|
| Hauptverfasser: | , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 913 |
|---|---|
| container_issue | 9 |
| container_start_page | 911 |
| container_title | Prenatal diagnosis |
| container_volume | 29 |
| creator | Chen, X.-L. Xu, C.-M. Cai, S.-R. Chen, C.-Y. Zhang, X.-N. |
| description | |
| doi_str_mv | 10.1002/pd.2315 |
| format | Article |
| fullrecord | <record><control><sourceid>istex_cross</sourceid><recordid>TN_cdi_crossref_primary_10_1002_pd_2315</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>ark_67375_WNG_08BTN98R_0</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3525-b81b2d3b548676b052b5c0f6bf2a56b4483902400a47d25d181332adf77e8fe03</originalsourceid><addsrcrecordid>eNp10E1v1DAQBmALFdFtQf0HlS9VqVAWf8SxcyzbUpCWpUKLOFrjeNKaZpPIzgr2zB8nq6zKidOMNI9mRi8hZ5zNOWPife_nQnL1gsw4K3XGhJBHZMb42Euj-DE5SennCI0o9StyzEuVGyHUjPy5j9jCAA31AR7aLoVEu5piHzzGTdfshlDRHppN1zfQDhDpE0YYuv0UaAXbhJ66Ha3m61yzBX3bz79wpddX-y3DI048tLSkD9giHTugi8fQYhpnofUR_WvysoYm4ZtDPSXfP96uF5-y5de7z4vrZVZJJVTmDHfCSze-XujCMSWcqlhduFqAKlyeG1kykTMGufZCeW64lAJ8rTWaGpk8JZfT3ip2KUWsbR_DBuLOcmb3Mdre232MozyfZL91G_T_3CG3EVwcAKQKmjpCW4X07AQ3pRaqHN27yf0KDe7-d8_e3xzOZpMOacDfzxriky201Mr-WN1ZZj6sV6X5Zpn8C9xNlQE</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Chen, X.-L. ; Xu, C.-M. ; Cai, S.-R. ; Chen, C.-Y. ; Zhang, X.-N.</creator><creatorcontrib>Chen, X.-L. ; Xu, C.-M. ; Cai, S.-R. ; Chen, C.-Y. ; Zhang, X.-N.</creatorcontrib><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.2315</identifier><identifier>PMID: 19548225</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Adult ; Amino Acid Substitution - genetics ; Asian Continental Ancestry Group - genetics ; Base Sequence ; Biological and medical sciences ; Delivery. Postpartum. Lactation ; DNA Mutational Analysis ; epidermolytic palmoplantar keratoderma ; Female ; Fundamental and applied biological sciences. Psychology ; gene mutation ; genetic counseling ; Genetics of eukaryotes. Biological and molecular evolution ; Gynecology. Andrology. Obstetrics ; Humans ; Keratin-9 - genetics ; Keratoderma, Palmoplantar, Epidermolytic - diagnosis ; Keratoderma, Palmoplantar, Epidermolytic - genetics ; KRT9 ; Medical sciences ; Methionine - genetics ; Molecular and cellular biology ; Pedigree ; Point Mutation - physiology ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis ; Threonine - genetics</subject><ispartof>Prenatal diagnosis, 2009-09, Vol.29 (9), p.911-913</ispartof><rights>Copyright © 2009 John Wiley & Sons, Ltd.</rights><rights>2009 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3525-b81b2d3b548676b052b5c0f6bf2a56b4483902400a47d25d181332adf77e8fe03</citedby><cites>FETCH-LOGICAL-c3525-b81b2d3b548676b052b5c0f6bf2a56b4483902400a47d25d181332adf77e8fe03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fpd.2315$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.2315$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,778,782,1414,27907,27908,45557,45558</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21897259$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19548225$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chen, X.-L.</creatorcontrib><creatorcontrib>Xu, C.-M.</creatorcontrib><creatorcontrib>Cai, S.-R.</creatorcontrib><creatorcontrib>Chen, C.-Y.</creatorcontrib><creatorcontrib>Zhang, X.-N.</creatorcontrib><title>Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><subject>Adult</subject><subject>Amino Acid Substitution - genetics</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Delivery. Postpartum. Lactation</subject><subject>DNA Mutational Analysis</subject><subject>epidermolytic palmoplantar keratoderma</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>gene mutation</subject><subject>genetic counseling</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Keratin-9 - genetics</subject><subject>Keratoderma, Palmoplantar, Epidermolytic - diagnosis</subject><subject>Keratoderma, Palmoplantar, Epidermolytic - genetics</subject><subject>KRT9</subject><subject>Medical sciences</subject><subject>Methionine - genetics</subject><subject>Molecular and cellular biology</subject><subject>Pedigree</subject><subject>Point Mutation - physiology</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis</subject><subject>Threonine - genetics</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10E1v1DAQBmALFdFtQf0HlS9VqVAWf8SxcyzbUpCWpUKLOFrjeNKaZpPIzgr2zB8nq6zKidOMNI9mRi8hZ5zNOWPife_nQnL1gsw4K3XGhJBHZMb42Euj-DE5SennCI0o9StyzEuVGyHUjPy5j9jCAA31AR7aLoVEu5piHzzGTdfshlDRHppN1zfQDhDpE0YYuv0UaAXbhJ66Ha3m61yzBX3bz79wpddX-y3DI048tLSkD9giHTugi8fQYhpnofUR_WvysoYm4ZtDPSXfP96uF5-y5de7z4vrZVZJJVTmDHfCSze-XujCMSWcqlhduFqAKlyeG1kykTMGufZCeW64lAJ8rTWaGpk8JZfT3ip2KUWsbR_DBuLOcmb3Mdre232MozyfZL91G_T_3CG3EVwcAKQKmjpCW4X07AQ3pRaqHN27yf0KDe7-d8_e3xzOZpMOacDfzxriky201Mr-WN1ZZj6sV6X5Zpn8C9xNlQE</recordid><startdate>200909</startdate><enddate>200909</enddate><creator>Chen, X.-L.</creator><creator>Xu, C.-M.</creator><creator>Cai, S.-R.</creator><creator>Chen, C.-Y.</creator><creator>Zhang, X.-N.</creator><general>John Wiley & Sons, Ltd</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope></search><sort><creationdate>200909</creationdate><title>Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred</title><author>Chen, X.-L. ; Xu, C.-M. ; Cai, S.-R. ; Chen, C.-Y. ; Zhang, X.-N.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3525-b81b2d3b548676b052b5c0f6bf2a56b4483902400a47d25d181332adf77e8fe03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adult</topic><topic>Amino Acid Substitution - genetics</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Delivery. Postpartum. Lactation</topic><topic>DNA Mutational Analysis</topic><topic>epidermolytic palmoplantar keratoderma</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>gene mutation</topic><topic>genetic counseling</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Keratin-9 - genetics</topic><topic>Keratoderma, Palmoplantar, Epidermolytic - diagnosis</topic><topic>Keratoderma, Palmoplantar, Epidermolytic - genetics</topic><topic>KRT9</topic><topic>Medical sciences</topic><topic>Methionine - genetics</topic><topic>Molecular and cellular biology</topic><topic>Pedigree</topic><topic>Point Mutation - physiology</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis</topic><topic>Threonine - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chen, X.-L.</creatorcontrib><creatorcontrib>Xu, C.-M.</creatorcontrib><creatorcontrib>Cai, S.-R.</creatorcontrib><creatorcontrib>Chen, C.-Y.</creatorcontrib><creatorcontrib>Zhang, X.-N.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chen, X.-L.</au><au>Xu, C.-M.</au><au>Cai, S.-R.</au><au>Chen, C.-Y.</au><au>Zhang, X.-N.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>2009-09</date><risdate>2009</risdate><volume>29</volume><issue>9</issue><spage>911</spage><epage>913</epage><pages>911-913</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>19548225</pmid><doi>10.1002/pd.2315</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0197-3851 |
| ispartof | Prenatal diagnosis, 2009-09, Vol.29 (9), p.911-913 |
| issn | 0197-3851 1097-0223 |
| language | eng |
| recordid | cdi_crossref_primary_10_1002_pd_2315 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adult Amino Acid Substitution - genetics Asian Continental Ancestry Group - genetics Base Sequence Biological and medical sciences Delivery. Postpartum. Lactation DNA Mutational Analysis epidermolytic palmoplantar keratoderma Female Fundamental and applied biological sciences. Psychology gene mutation genetic counseling Genetics of eukaryotes. Biological and molecular evolution Gynecology. Andrology. Obstetrics Humans Keratin-9 - genetics Keratoderma, Palmoplantar, Epidermolytic - diagnosis Keratoderma, Palmoplantar, Epidermolytic - genetics KRT9 Medical sciences Methionine - genetics Molecular and cellular biology Pedigree Point Mutation - physiology Polymorphism, Single Nucleotide Pregnancy Prenatal Diagnosis Threonine - genetics |
| title | Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-16T22%3A59%3A03IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-istex_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Prenatal%20diagnosis%20of%20epidermolytic%20palmoplantar%20keratoderma%20caused%20by%20c.T470C%20(p.M157T)%20of%20the%20keratin%209%20gene%20in%20a%20Chinese%20kindred&rft.jtitle=Prenatal%20diagnosis&rft.au=Chen,%20X.-L.&rft.date=2009-09&rft.volume=29&rft.issue=9&rft.spage=911&rft.epage=913&rft.pages=911-913&rft.issn=0197-3851&rft.eissn=1097-0223&rft.coden=PRDIDM&rft_id=info:doi/10.1002/pd.2315&rft_dat=%3Cistex_cross%3Eark_67375_WNG_08BTN98R_0%3C/istex_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_id=info:pmid/19548225&rfr_iscdi=true |