The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency-Reference-Cited by-同舟云学术

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The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency

Published:2009-05 Issue:1 Volume:97 Page:75-79
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Lee Yann-Jinn,Tsai Li-Ping,Niu Dau-Ming,Shu San-Ging,Chao Mei-Chyn,Lee Hsien-Hsiung

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference39 articles.

1. Chimeric CYP21A1P/CYP21 and TNXA/TNXB genes in the RCCX module;Lee;Mol. Genet. Metab.,2005

2. Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon–intron structure, composition retroposon, and breakpoint of gene duplication;Shen;J. Biol. Chem.,1994

3. Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus;Gitelman;Mol. Cell. Biol.,1992

4. Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B;Bristow;J. Cell Biol.,1993

5. Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in Caucasians: the load of RCCX genetic diversity on major histocompatibility complex-associated disease;Blanchong;J. Exp. Med.,2000

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency;Frontiers in Endocrinology;2023-03-17

2. Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation;Gene;2013-01

3. Current World Literature;Current Opinion in Endocrinology, Diabetes & Obesity;2010-06

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