Functional characterization of the novel L108W and P186L mutations detected in the type II 3β-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia

Functional Characterization ◽

The Novel ◽

Type Ii ◽

Adrenal Hyperplasia ◽

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):

Type Ii ◽

Adrenal Hyperplasia ◽

Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency.

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jcem.78.3.8126127 ◽

1994 ◽

Vol 78 (3) ◽

pp. 561-567 ◽

Cited By ~ 1

Author(s):

R Sanchez ◽

E Rhéaume ◽

N Laflamme ◽

R L Rosenfield ◽

F Labrie ◽

...

Keyword(s):

Missense Mutation ◽

Female Patient ◽

Functional Characterization ◽

The Novel ◽

Type Ii

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):

Nonsense Mutation ◽

Female Child ◽

Type Ii ◽

Adrenal Hyperplasia ◽

Dehydrogenase Gene ◽

Homozygous Nonsense Mutation

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 ◽

Cited By ~ 27

Author(s):

Y T Chang ◽

M S Kappy ◽

K Iwamoto ◽

J Wang ◽

X Yang ◽

...

Keyword(s):

Dehydrogenase Deficiency ◽

Type Ii ◽

Adrenal Hyperplasia ◽

Salt Wasting ◽

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 ◽

Cited By ~ 6

Author(s):

Suemi Marui ◽

Isabel M. Torrealba ◽

Alan J. Russell ◽

Ana C. Latronico ◽

Roger G. Sutcliffe ◽

...

Keyword(s):

Nonsense Mutation ◽

Type Ii ◽

Adrenal Hyperplasia ◽

Dehydrogenase Gene ◽

Homozygous Nonsense Mutation

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):

Type Ii ◽

Adrenal Hyperplasia ◽

Dehydrogenase Gene ◽

Premature Pubarche

Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.78.3.561 ◽

1994 ◽

Vol 78 (3) ◽

pp. 561-567 ◽

Cited By ~ 20

Author(s):

R. Sanchez

Keyword(s):

Missense Mutation ◽

Female Patient ◽

Functional Characterization ◽

The Novel ◽

Type Ii

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 ◽

Cited By ~ 16

Author(s):

Noriyuki Katsumata ◽

Ayako Tanae ◽

Toru Yasunaga ◽

Reiko Horikawa ◽

Toshiaki Tanaka ◽

...

Keyword(s):

Missense Mutation ◽

Dehydrogenase Deficiency ◽

Type Ii ◽

Adrenal Hyperplasia ◽

Salt Wasting ◽

Congenital adrenal hyperplasia due to point mutations in the type II 3β–hydroxysteroid dehydrogenase gene

Nature Genetics ◽

10.1038/ng0792-239 ◽

1992 ◽

Vol 1 (4) ◽

pp. 239-245 ◽

Cited By ~ 161

Author(s):

Eric Rhéaume ◽

Jacques Simard ◽

Yves Morel ◽

Farida Mebarki ◽

Milo Zachmann ◽

...

Keyword(s):

Point Mutations ◽

Type Ii ◽

Adrenal Hyperplasia ◽

Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273ΔAA in type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin

Human Molecular Genetics ◽

10.1093/hmg/3.2.327 ◽

1994 ◽

Vol 3 (2) ◽

pp. 327-330 ◽

Cited By ~ 26

Author(s):

Jacques Simard ◽

Eric Rhéaume ◽

Jean-François Lebianc ◽

Simon C. Wallis ◽

Graham F. Joplln ◽

...

Keyword(s):

Frameshift Mutation ◽

Type Ii ◽

Adrenal Hyperplasia ◽

Dehydrogenase Gene ◽

Pakistani Origin ◽

Male Patients