Mutations in the Mitochondrial tRNA Ser(UCN) and in the GJB2 (Connexin 26) Gene Are Not Modifiers of the Age at Onset or Severity of Hearing Loss in Spanish Patients with the 12S rRNA A1555G Mutation
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| Veröffentlicht in: | American journal of human genetics 2000-04, Vol.66 (4), p.1465-1467 |
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| container_title | American journal of human genetics |
| container_volume | 66 |
| creator | López-Bigas, N. Rabionet, R. Martinez, E. Bravo, O. Girons, J. Borragan, A. Pellicer, M. Arbonés, M.L. Estivill, X. |
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| doi_str_mv | 10.1086/302870 |
| format | Article |
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All rights reserved. 2000</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c335t-2591dcbfa47c944956b996dd95e30cda3807ee758fe89178e7a70013beeea95b3</citedby><cites>FETCH-LOGICAL-c335t-2591dcbfa47c944956b996dd95e30cda3807ee758fe89178e7a70013beeea95b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288216/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0002929707601785$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,3537,27901,27902,53766,53768,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10739773$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>López-Bigas, N.</creatorcontrib><creatorcontrib>Rabionet, R.</creatorcontrib><creatorcontrib>Martinez, E.</creatorcontrib><creatorcontrib>Bravo, O.</creatorcontrib><creatorcontrib>Girons, J.</creatorcontrib><creatorcontrib>Borragan, A.</creatorcontrib><creatorcontrib>Pellicer, M.</creatorcontrib><creatorcontrib>Arbonés, M.L.</creatorcontrib><creatorcontrib>Estivill, X.</creatorcontrib><title>Mutations in the Mitochondrial tRNA Ser(UCN) and in the GJB2 (Connexin 26) Gene Are Not Modifiers of the Age at Onset or Severity of Hearing Loss in Spanish Patients with the 12S rRNA A1555G Mutation</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><subject>12S rRNA A1555G mutation</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Age of Onset</subject><subject>Aged</subject><subject>Amino Acid Substitution - genetics</subject><subject>Aminoglycosides</subject><subject>Anti-Bacterial Agents - administration & dosage</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Connexin 26</subject><subject>Connexins - genetics</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Extrachromosomal Inheritance - genetics</subject><subject>Genes, Dominant - genetics</subject><subject>Genes, Recessive - genetics</subject><subject>Genes, rRNA - genetics</subject><subject>GJB2 (connexin 26)</subject><subject>Hearing loss</subject><subject>Hearing Loss, Sensorineural - epidemiology</subject><subject>Hearing Loss, Sensorineural - genetics</subject><subject>Hearing Loss, Sensorineural - physiopathology</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Letter to the Editor</subject><subject>Middle Aged</subject><subject>mtDNA</subject><subject>Mutation - genetics</subject><subject>Penetrance</subject><subject>RNA, Ribosomal - genetics</subject><subject>RNA, Transfer, Ser - genetics</subject><subject>Spain</subject><subject>tRNA Ser(UCN)</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkVFv0zAUhSMEYmXAT0B-QttDwI7rOH5BChXrQG2HKHu2HOemMUrtznbL9gv5W7jtBoOnK_kef_fonCx7TfA7gqvyPcVFxfGTbEQY5XlZYvY0G2GMi1wUgp9kL0L4gTEhFabPsxOCORWc01H2a76NKhpnAzIWxR7Q3ESne2dbb9SA4rdFjZbgz64ni3OkbPsgm375WKCzibMWbtNTUZ6jKVhAtQe0cBHNXWs6Az4g1x0-1CtAKqIrGyAi5xN0B97Eu_3-EpQ3doVmLhx8LDfKmtCjr8ka2BjQTxP7A4UUS-T3nmrCGJuiB_svs2edGgK8up-n2fXFp--Ty3x2Nf08qWe5ppTFvGCCtLrp1JhrMR4LVjZClG0rGFCsW0UrzAE4qzqoBOEVcMVTbLQBACVYQ0-zD0fuZtusodXJnVeD3HizVv5OOmXkvxtrerlyO0mKqipImQBv7wHe3WwhRLk2QcMwKAtuGyQnmPCSVn-F2qdUPHR_jhAs953LY-dJ-OaxpUeyY8lJgI8CSMHsUicy6BSrhtZ40FG2zvzP_A3RDLWf</recordid><startdate>20000401</startdate><enddate>20000401</enddate><creator>López-Bigas, N.</creator><creator>Rabionet, R.</creator><creator>Martinez, E.</creator><creator>Bravo, O.</creator><creator>Girons, J.</creator><creator>Borragan, A.</creator><creator>Pellicer, M.</creator><creator>Arbonés, M.L.</creator><creator>Estivill, X.</creator><general>Elsevier Inc</general><general>The American Society of Human Genetics</general><scope>6I.</scope><scope>AAFTH</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><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20000401</creationdate><title>Mutations in the Mitochondrial tRNA Ser(UCN) and in the GJB2 (Connexin 26) Gene Are Not Modifiers of the Age at Onset or Severity of Hearing Loss in Spanish Patients with the 12S rRNA A1555G Mutation</title><author>López-Bigas, N. ; 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| fulltext | fulltext |
| identifier | ISSN: 0002-9297 |
| ispartof | American journal of human genetics, 2000-04, Vol.66 (4), p.1465-1467 |
| issn | 0002-9297 1537-6605 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1288216 |
| source | MEDLINE; Cell Press Free Archives; Elsevier ScienceDirect Journals; EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | 12S rRNA A1555G mutation Adolescent Adult Age of Onset Aged Amino Acid Substitution - genetics Aminoglycosides Anti-Bacterial Agents - administration & dosage Child Child, Preschool Connexin 26 Connexins - genetics DNA, Mitochondrial - genetics Extrachromosomal Inheritance - genetics Genes, Dominant - genetics Genes, Recessive - genetics Genes, rRNA - genetics GJB2 (connexin 26) Hearing loss Hearing Loss, Sensorineural - epidemiology Hearing Loss, Sensorineural - genetics Hearing Loss, Sensorineural - physiopathology Humans Infant Infant, Newborn Letter to the Editor Middle Aged mtDNA Mutation - genetics Penetrance RNA, Ribosomal - genetics RNA, Transfer, Ser - genetics Spain tRNA Ser(UCN) |
| title | Mutations in the Mitochondrial tRNA Ser(UCN) and in the GJB2 (Connexin 26) Gene Are Not Modifiers of the Age at Onset or Severity of Hearing Loss in Spanish Patients with the 12S rRNA A1555G Mutation |
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