التفاصيل البيبلوغرافية
العنوان: |
Partial deletion of the NR5A1 (SF1) gene, detected by synthetic probe MLPA, in a patient with XY gonadal disorder of sex development |
المؤلفون: |
Barbano, M, Cools, Martine, Looijenga, LHJ, Drop, SLS, Wedell, A |
المصدر: |
SEXUAL DEVELOPMENT ; ISSN: 1661-5425 |
سنة النشر: |
2011 |
المجموعة: |
Ghent University Academic Bibliography |
مصطلحات موضوعية: |
Biology and Life Sciences, Steroidogenic factor 1, STEROIDOGENIC FACTOR-I, NR5A1, MLPA, Disorders of sex development, ADRENAL INSUFFICIENCY, NUCLEAR RECEPTOR, GLY146ALA POLYMORPHISM, XY FEMALE, SF-1 GENE, FACTOR-1, MUTATIONS, REVERSAL, EXPRESSION |
الوقت: |
46 |
نوع الوثيقة: |
article in journal/newspaper |
وصف الملف: |
application/pdf |
اللغة: |
English |
العلاقة: |
https://biblio.ugent.be/publication/1247058Test; http://hdl.handle.net/1854/LU-1247058Test; http://dx.doi.org/10.1159/000328821Test; https://biblio.ugent.be/publication/1247058/file/2094027Test |
DOI: |
10.1159/000328821 |
الإتاحة: |
https://doi.org/10.1159/000328821Test https://biblio.ugent.be/publication/1247058Test http://hdl.handle.net/1854/LU-1247058Test https://biblio.ugent.be/publication/1247058/file/2094027Test |
حقوق: |
No license (in copyright) ; info:eu-repo/semantics/restrictedAccess |
رقم الانضمام: |
edsbas.A0221891 |
قاعدة البيانات: |
BASE |