Three novel mutations in the androgen receptor gene associated with partial androgen insensitivity syndrome: H570R, G589E and S759T
Three novel mutations in the androgen receptor gene were detectedby PCR-SSCP and characterized by DNA sequencing of genomicDNA samples from 3 unrelated patients with male pseudohermaphroditism caused by partial androgen insensitivity. Thepatients’ phenotypes suggest that these mutations impaired but...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Instituto Israelita de Ensino e Pesquisa Albert Einstein
2003-03-01
|
| Series: | Einstein (São Paulo) |
| Subjects: | |
| Online Access: | http://www.einstein.br/biblioteca/pdf/Artigo%201.pdf |
| _version_ | 1828380553068412928 |
|---|---|
| author | Patrícia Renovato Tobo Angela Silva Barbosa Lene Garcia Barbosa Angela Maria Spínola-Castro Carlos Alberto Moreira-Filho |
| author_facet | Patrícia Renovato Tobo Angela Silva Barbosa Lene Garcia Barbosa Angela Maria Spínola-Castro Carlos Alberto Moreira-Filho |
| author_sort | Patrícia Renovato Tobo |
| collection | DOAJ |
| description | Three novel mutations in the androgen receptor gene were detectedby PCR-SSCP and characterized by DNA sequencing of genomicDNA samples from 3 unrelated patients with male pseudohermaphroditism caused by partial androgen insensitivity. Thepatients’ phenotypes suggest that these mutations impaired butdid not abolish the AR function. |
| first_indexed | 2024-12-10T03:59:06Z |
| format | Article |
| id | doaj.art-8de6a26900bc4048829b47e7bfc14349 |
| institution | Directory Open Access Journal |
| issn | 1679-4508 |
| language | English |
| last_indexed | 2024-12-10T03:59:06Z |
| publishDate | 2003-03-01 |
| publisher | Instituto Israelita de Ensino e Pesquisa Albert Einstein |
| record_format | Article |
| series | Einstein (São Paulo) |
| spelling | doaj.art-8de6a26900bc4048829b47e7bfc143492022-12-22T02:03:01ZengInstituto Israelita de Ensino e Pesquisa Albert EinsteinEinstein (São Paulo)1679-45082003-03-011112Three novel mutations in the androgen receptor gene associated with partial androgen insensitivity syndrome: H570R, G589E and S759TPatrícia Renovato ToboAngela Silva BarbosaLene Garcia BarbosaAngela Maria Spínola-CastroCarlos Alberto Moreira-FilhoThree novel mutations in the androgen receptor gene were detectedby PCR-SSCP and characterized by DNA sequencing of genomicDNA samples from 3 unrelated patients with male pseudohermaphroditism caused by partial androgen insensitivity. Thepatients’ phenotypes suggest that these mutations impaired butdid not abolish the AR function.http://www.einstein.br/biblioteca/pdf/Artigo%201.pdfMutationAndrogensAndrogen-insensitivity syndromePolymerase chain reactionPolymorphismSingle stranded conformationalPseudohermaphroditismMale |
| spellingShingle | Patrícia Renovato Tobo Angela Silva Barbosa Lene Garcia Barbosa Angela Maria Spínola-Castro Carlos Alberto Moreira-Filho Three novel mutations in the androgen receptor gene associated with partial androgen insensitivity syndrome: H570R, G589E and S759T Einstein (São Paulo) Mutation Androgens Androgen-insensitivity syndrome Polymerase chain reaction Polymorphism Single stranded conformational Pseudohermaphroditism Male |
| title | Three novel mutations in the androgen receptor gene associated with partial androgen insensitivity syndrome: H570R, G589E and S759T |
| title_full | Three novel mutations in the androgen receptor gene associated with partial androgen insensitivity syndrome: H570R, G589E and S759T |
| title_fullStr | Three novel mutations in the androgen receptor gene associated with partial androgen insensitivity syndrome: H570R, G589E and S759T |
| title_full_unstemmed | Three novel mutations in the androgen receptor gene associated with partial androgen insensitivity syndrome: H570R, G589E and S759T |
| title_short | Three novel mutations in the androgen receptor gene associated with partial androgen insensitivity syndrome: H570R, G589E and S759T |
| title_sort | three novel mutations in the androgen receptor gene associated with partial androgen insensitivity syndrome h570r g589e and s759t |
| topic | Mutation Androgens Androgen-insensitivity syndrome Polymerase chain reaction Polymorphism Single stranded conformational Pseudohermaphroditism Male |
| url | http://www.einstein.br/biblioteca/pdf/Artigo%201.pdf |
| work_keys_str_mv | AT patriciarenovatotobo threenovelmutationsintheandrogenreceptorgeneassociatedwithpartialandrogeninsensitivitysyndromeh570rg589eands759t AT angelasilvabarbosa threenovelmutationsintheandrogenreceptorgeneassociatedwithpartialandrogeninsensitivitysyndromeh570rg589eands759t AT lenegarciabarbosa threenovelmutationsintheandrogenreceptorgeneassociatedwithpartialandrogeninsensitivitysyndromeh570rg589eands759t AT angelamariaspinolacastro threenovelmutationsintheandrogenreceptorgeneassociatedwithpartialandrogeninsensitivitysyndromeh570rg589eands759t AT carlosalbertomoreirafilho threenovelmutationsintheandrogenreceptorgeneassociatedwithpartialandrogeninsensitivitysyndromeh570rg589eands759t |