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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

机译：发单染色体8染色体导致患有先天性增生性增生的患者纯合的纯合子：对常染色体隐性疾病的罕见病因意义意义

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Keiko Matsubara; Naoki Kataoka; Satoko Ogita; Shinichiro Sano; Tsutomu Ogata; Maki Fukami; Noriyuki Katsumata;
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1. 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 [J] . Keiko Matsubara, Naoki Kataoka, Satoko Ogita, Endocrine journal . 2014,第6期

机译：先天性肾上腺增生患者的第8号染色体单亲二体性导致CYP11B1突变的纯合性：对常染色体隐性遗传病的罕见病因学意义
2. 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 [J] . Keiko Matsubara, Maki Fukami, Naoki Kataoka, Endocrine journal . 2014,第6期

机译：先天性肾上腺增生患者的第8号染色体单亲二体性导致CYP11B1突变的纯合性：对常染色体隐性遗传病的罕见病因学意义
3. Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia [J] . KarinPanzer, Osayame A.Ekhaguere, BenjaminDarbro, Journal of Clinical Research in Pediatric Endocrinology . 2017,第1期

机译：染色体1的单亲等位线揭示了常染色体隐性隐性3-β羟类固醇脱氢酶II型相关先天性肾上腺皮质增生
4. Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia [O] . Karin Panzer, Osayame A. Ekhaguere, Benjamin Darbro, 2017

机译：1号染色体的单亲等位线揭示了常染色体隐性隐性3-β羟类固醇脱氢酶II型相关先天性肾上腺皮质增生
5. Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases [O] . Pérez Belén, Nevado Julián, Gallego-Villar Lorena 2015

机译：节段性单亲二体性导致纯合性的三种隐性代谢疾病的致病性突变。

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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