Molecular analysis of type II 3 -hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 -hydroxysteroid dehydrogenase deficiency

Human Molecular Genetics ◽

10.1093/hmg/4.5.969 ◽

1995 ◽

Vol 4 (5) ◽

pp. 969-971 ◽

Author(s):

T. Tajima ◽

K. Fujieda ◽

J. Nakae ◽

N. Shinohara ◽

M. Yoshimoto ◽

...

Keyword(s):

Molecular Analysis ◽

Dehydrogenase Deficiency ◽

Japanese Patients ◽

Hydroxysteroid Dehydrogenase ◽

Type Ii ◽

Dehydrogenase Gene

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Mutations in the Type II 3β-Hydroxysteroid Dehydrogenase Gene in a Patient with Classic Salt-Wasting 3β-Hydroxysteroid Dehydrogenase Deficiency Congenital Adrenal Hyperplasia

Pediatric Research ◽

10.1203/00006450-199311000-00026 ◽

1993 ◽

Vol 34 (5) ◽

pp. 698-700 ◽

Author(s):

Y T Chang ◽

M S Kappy ◽

K Iwamoto ◽

J Wang ◽

X Yang ◽

...

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Dehydrogenase Deficiency ◽

Hydroxysteroid Dehydrogenase ◽

Type Ii ◽

Adrenal Hyperplasia ◽

Salt Wasting ◽

Dehydrogenase Gene

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A novel missense mutation in the type II 3β-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency

Human Molecular Genetics ◽

10.1093/hmg/4.4.745 ◽

1995 ◽

Vol 4 (4) ◽

pp. 745-746 ◽

Author(s):

Noriyuki Katsumata ◽

Ayako Tanae ◽

Toru Yasunaga ◽

Reiko Horikawa ◽

Toshiaki Tanaka ◽

...

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Missense Mutation ◽

Dehydrogenase Deficiency ◽

Hydroxysteroid Dehydrogenase ◽

Type Ii ◽

Adrenal Hyperplasia ◽

Salt Wasting ◽

Dehydrogenase Gene

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Phenotype & genotype of congenital adrenal hyperplasia due to mutation in the type ii 3β-hydroxysteroid dehydrogenase gene: a report of two Vietnamese families

International Journal of Pediatric Endocrinology ◽

10.1186/1687-9856-2015-s1-p50 ◽

2015 ◽

Vol 2015 (S1) ◽

Author(s):

Vu Chi Dung ◽

Bui Phuong Thao ◽

Nguyen Ngoc Khanh ◽

Can Thi Bich Ngoc ◽

Nguyen Phu Dat ◽

...

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Hydroxysteroid Dehydrogenase ◽

Type Ii ◽

Adrenal Hyperplasia ◽

Dehydrogenase Gene

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A Novel Homozygous Nonsense Mutation E135X in the Type II 3β-Hydroxysteroid Dehydrogenase Gene (3β-Hsd) of A Female Child With Salt-Losing Congenital Adrenal Hyperplasia (Cah). 32

Pediatric Research ◽

10.1203/00006450-199802000-00055 ◽

1998 ◽

Vol 43 (2) ◽

pp. 300-300

Author(s):

Suemi Marui ◽

Isabel M Torrealba ◽

Alan J Russell ◽

Ana C Latronico ◽

Roger G Sutcliffe ◽

...

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Nonsense Mutation ◽

Hydroxysteroid Dehydrogenase ◽

Female Child ◽

Type Ii ◽

Adrenal Hyperplasia ◽

Dehydrogenase Gene ◽

Homozygous Nonsense Mutation

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No Genetic Mutation in Type II 3β-Hydroxysteroid Dehydrogenase Gene in Patients with Biochemical Evidence of Enzyme Deficiency

Hormone Research ◽

10.1159/000185430 ◽

1997 ◽

Vol 47 (2) ◽

pp. 49-53 ◽

Author(s):

Toshihiro Tajima ◽

Yoshikazu Nishi ◽

Aiko Takase ◽

Jun Nakae ◽

Mari Murashita ◽

...

Keyword(s):

Hydroxysteroid Dehydrogenase ◽

Genetic Mutation ◽

Enzyme Deficiency ◽

Type Ii ◽

Biochemical Evidence ◽

Dehydrogenase Gene

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Variants of the Type II 3β-Hydroxysteroid Dehydrogenase Gene in Children with Premature Pubic Hair and Hyperandrogenic Adolescents

Molecular Genetics and Metabolism ◽

10.1006/mgme.1998.2715 ◽

1998 ◽

Vol 64 (3) ◽

pp. 184-192 ◽

Author(s):

Sunil Nayak ◽

Peter A. Lee ◽

Selma F. Witchel

Keyword(s):

Hydroxysteroid Dehydrogenase ◽

Type Ii ◽

Dehydrogenase Gene

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A novel homozygous nonsense mutation E135* in the type II 3β-hydroxysteroid dehydrogenase gene in a girl with salt-losing congenital adrenal hyperplasia

Human Mutation ◽

10.1002/(sici)1098-1004(1998)12:2<139::aid-humu19>3.0.co;2-4 ◽

1998 ◽

Vol 12 (2) ◽

pp. 139-139 ◽

Author(s):

Suemi Marui ◽

Isabel M. Torrealba ◽

Alan J. Russell ◽

Ana C. Latronico ◽

Roger G. Sutcliffe ◽

...

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Nonsense Mutation ◽

Hydroxysteroid Dehydrogenase ◽

Type Ii ◽

Adrenal Hyperplasia ◽

Dehydrogenase Gene ◽

Homozygous Nonsense Mutation

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Newly Proposed Hormonal Criteria via Genotypic Proof for Type II 3β-Hydroxysteroid Dehydrogenase Deficiency

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jcem.87.6.8615 ◽

2002 ◽

Vol 87 (6) ◽

pp. 2611-2622 ◽

Author(s):

Chantal Lutfallah ◽

Weihua Wang ◽

J. Ian Mason ◽

Ying Tai Chang ◽

Anzar Haider ◽

...

Keyword(s):

Dehydrogenase Deficiency ◽

Hydroxysteroid Dehydrogenase ◽

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Analysis of the Type II 3β-Hydroxysteroid Dehydrogenase Gene in Patients with Nonclassical Congenital Adrenal Hyperplasia, Premature Pubarche, and Hyperandrogenism. † 407

Pediatric Research ◽

10.1203/00006450-199704001-00427 ◽

1997 ◽

Vol 41 ◽

pp. 70-70

Author(s):

Sunil Nayak ◽

Peter A. Lee ◽

Selma F. Witchel

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Hydroxysteroid Dehydrogenase ◽

Type Ii ◽

Adrenal Hyperplasia ◽

Dehydrogenase Gene ◽

Premature Pubarche

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Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.80.7.2127 ◽

1995 ◽

Vol 80 (7) ◽

pp. 2127-2134 ◽

Author(s):

F. Mebarki

Keyword(s):

Hydroxysteroid Dehydrogenase ◽

Male Pseudohermaphroditism ◽

The Novel ◽

Type Ii ◽

Dehydrogenase Gene

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