A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics-Reference-Cited by-同舟云学术

A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics

Published:2017-04-12 Issue:6 Volume:25 Page:702-710
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Doleschall Márton,Luczay Andrea,Koncz Klára,Hadzsiev Kinga,Erhardt Éva,Szilágyi Ágnes,Doleschall Zoltán,Németh Krisztina,Török Dóra,Prohászka Zoltán,Gereben Balázs,Fekete György,Gláz Edit,Igaz Péter,Korbonits Márta,Tóth Miklós,Rácz Károly,Patócs Attila

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201738.pdf

Reference43 articles.

1. Banlaki Z, Szabo JA, Szilagyi A et al: Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene. Genome Biol Evol 2013; 5: 98–112.

2. Handsaker RE, Van Doren V, Berman JR et al: Large multiallelic copy number variations in humans. Nat Genet 2015; 47: 296–303.

3. Blanchong CA, Zhou B, Rupert KL et al: 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. J Exp Med 2000; 191: 2183–2196.

4. Szilagyi A, Doleschall M, Fust G Complement genes in the central region of the MHC. In: Mehra NK (ed): The HLA Complex in Biology and Medicine: A Resource Book. New Delhi, India: Jaypee Brothers Medical Publishers, 2010, pp 135–158.

5. Miller WL, Auchus RJ : The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev 2011; 32: 81–151.

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