A(870)E mutation of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and sertoli cell tumor
In a 60-year-old woman with complete androgen insensitivity syndrome (CAIS) and Sertoli cell tumor, a germline mutation (A870E) in exon 8 of the androgen receptor (AR) gene could be detected. A sister of the patient was also affected by CAIS and developed a Sertoli cell tumor at age 56. The mutation...
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| Veröffentlicht in: | Cancer genetics and cytogenetics 1997-10, Vol.98 (2), p.139-141 |
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| container_end_page | 141 |
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| container_title | Cancer genetics and cytogenetics |
| container_volume | 98 |
| creator | Knoke, I Jakubiczka, S Ottersen, T Göppinger, A Wieacker, P |
| description | In a 60-year-old woman with complete androgen insensitivity syndrome (CAIS) and Sertoli cell tumor, a germline mutation (A870E) in exon 8 of the androgen receptor (AR) gene could be detected. A sister of the patient was also affected by CAIS and developed a Sertoli cell tumor at age 56. The mutation has not been described so far and could be seen in a causal relationship with the development of this tumor. |
| doi_str_mv | 10.1016/S0165-4608(96)00423-2 |
| format | Article |
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Sex hormones resistance</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Point Mutation</subject><subject>Receptors, Androgen - genetics</subject><subject>Sertoli Cell Tumor - genetics</subject><issn>0165-4608</issn><issn>1873-4456</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1vFSEUhonR1Gv1JzRhYUy7mPYMMMCsTNPU1qSJi-qacJkzFjMzjMDU3F1_utyP3LhzA4H3OXB4IOSshssaann1WIamEhL0eSsvAATjFXtFVrVWvBKika_J6oi8Je9S-gUAirXyhJy0nDOhYUVers-1gotbOi7ZZh8mGnqan5DaqYvhJ040osM5h0jLAqmfqKVzIXHK9I_PT9SFcR4w_1Php4RT8tk_-7yhabPdH3c5TRhzGDx1OAw0L2OI78mb3g4JPxzmU_Ljy-33m_vq4dvd15vrh8px3ebKcsYktNYBMMW0U8pC00qledeJtepZY9umdqo8uIMeRacE6HXfsbXVPTDgp-TT_tw5ht8LpmxGn7Zt2AnDkoxquag5kwVs9qCLIaWIvZmjH23cmBrM1rzZmTdbraaVZmfesFJ3drhgWY_YHasOqkv-8ZDb5OzQRzs5n44Y06JpFC_Y5z2GRcazx2iSK7Iddr78RDZd8P9p5C-3p6Bf</recordid><startdate>19971015</startdate><enddate>19971015</enddate><creator>Knoke, I</creator><creator>Jakubiczka, S</creator><creator>Ottersen, T</creator><creator>Göppinger, A</creator><creator>Wieacker, P</creator><general>Elsevier Inc</general><general>Elsevier Science</general><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><scope>7X8</scope></search><sort><creationdate>19971015</creationdate><title>A(870)E mutation of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and sertoli cell tumor</title><author>Knoke, I ; Jakubiczka, S ; Ottersen, T ; Göppinger, A ; Wieacker, P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c389t-a322609ac002728c77a0596783dd4b7f25a951c7165d0fe4d7408bfd2ba8f0203</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Androgen-Insensitivity Syndrome - genetics</topic><topic>Biological and medical sciences</topic><topic>Female</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Male</topic><topic>Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Point Mutation</topic><topic>Receptors, Androgen - genetics</topic><topic>Sertoli Cell Tumor - genetics</topic><toplevel>online_resources</toplevel><creatorcontrib>Knoke, I</creatorcontrib><creatorcontrib>Jakubiczka, S</creatorcontrib><creatorcontrib>Ottersen, T</creatorcontrib><creatorcontrib>Göppinger, A</creatorcontrib><creatorcontrib>Wieacker, P</creatorcontrib><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><collection>MEDLINE - Academic</collection><jtitle>Cancer genetics and cytogenetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Knoke, I</au><au>Jakubiczka, S</au><au>Ottersen, T</au><au>Göppinger, A</au><au>Wieacker, P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A(870)E mutation of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and sertoli cell tumor</atitle><jtitle>Cancer genetics and cytogenetics</jtitle><addtitle>Cancer Genet Cytogenet</addtitle><date>1997-10-15</date><risdate>1997</risdate><volume>98</volume><issue>2</issue><spage>139</spage><epage>141</epage><pages>139-141</pages><issn>0165-4608</issn><eissn>1873-4456</eissn><coden>CGCYDF</coden><abstract>In a 60-year-old woman with complete androgen insensitivity syndrome (CAIS) and Sertoli cell tumor, a germline mutation (A870E) in exon 8 of the androgen receptor (AR) gene could be detected. 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| fulltext | fulltext |
| identifier | ISSN: 0165-4608 |
| ispartof | Cancer genetics and cytogenetics, 1997-10, Vol.98 (2), p.139-141 |
| issn | 0165-4608 1873-4456 |
| language | eng |
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| source | MEDLINE; Access via ScienceDirect (Elsevier) |
| subjects | Androgen-Insensitivity Syndrome - genetics Biological and medical sciences Female Gynecology. Andrology. Obstetrics Humans Male Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance Medical sciences Middle Aged Point Mutation Receptors, Androgen - genetics Sertoli Cell Tumor - genetics |
| title | A(870)E mutation of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and sertoli cell tumor |
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