New Compound Heterozygous Mutation in the CYP17 Gene in a 46,XY Girl with 17α-Hydroxylase/17,20-Lyase Deficiency

2001 ◽  
Vol 55 (3) ◽  
pp. 141-146 ◽  
Author(s):  
Noriyuki Katsumata ◽  
Mari Satoh ◽  
Atsushi Mikami ◽  
Shoko Mikami ◽  
Atsuko Nagashima-Miyokawa ◽  
...  
Keyword(s):  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Lyase Deficiency ◽  
I Gene

scholarly journals A novel compound heterozygous mutation in the GJB2 gene is associated with non-syndromic hearing loss in a Chinese family

2018 ◽  
Vol 12 (5) ◽  
pp. 470-475 ◽  
Author(s):  
Haiou Jiang ◽  
Youya Niu ◽  
Lingfeng Qu ◽  
Xueshuang Huang ◽  
Xinlong Zhu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Compound Heterozygous Mutation ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Syndromic Hearing Loss ◽  
I Gene

A novel compound heterozygous mutation in the CYP17 (P450 17α-hydroxylase) gene leading to 17α-hydroxylase/17,20-lyase deficiency

Metabolism ◽  
2003 ◽  
Vol 52 (4) ◽  
pp. 488-492 ◽  
Author(s):  
Jong Ryeal Hahm ◽  
Deok Ryong Kim ◽  
Dong Kee Jeong ◽  
Jae Hoon Chung ◽  
Myung-Shik Lee ◽  
...  
Keyword(s):  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Lyase Deficiency ◽  
Hydroxylase Gene

scholarly journals A Novel Compound Heterozygous Mutation in the CYP4V2 Gene in a Japanese Patient with Bietti’s Crystalline Corneoretinal Dystrophy

2011 ◽  
Vol 2 (3) ◽  
pp. 296-301 ◽  
Author(s):  
Yumiko Yokoi ◽  
Kota Sato ◽  
Hajime Aoyagi ◽  
Yoshihisa Takahashi ◽  
Minako Yamagami ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
I Gene

A new compound heterozygous mutation in theCYP17A1gene in a female with 17α-hydroxylase/17,20-lyase deficiency

2013 ◽  
Vol 29 (7) ◽  
pp. 720-723 ◽  
Author(s):  
Eun Sil Lee ◽  
Myungshin Kim ◽  
Sungdae Moon ◽  
Dong Wook Jekarl ◽  
Seungok Lee ◽  
...  
Keyword(s):  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Lyase Deficiency
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