Academic Journal
Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder
| العنوان: | Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder |
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| المؤلفون: | Keiko Matsubara, Maki Fukami, Naoki Kataoka, Noriyuki Katsumata, Satoko Ogita, Shinichiro Sano, Tsutomu Ogata |
| المصدر: | Endocrine Journal. 2014, 61(6):629 |
| قاعدة البيانات: | J-STAGE |
Full Text Finder | تدمد: | 09188959 13484540 |
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| DOI: | 10.1507/endocrj.EJ13-0509 |