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

There is a difficulty in the molecular diagnosis of congenital adrenal hyperplasia (CAH) due to the c.955C>T (p.(Q319*), formerly Q318X, rs7755898) variant of the CYP21A2 gene. Therefore, a systematic assessment of the genetic and evolutionary relationships between c.955C>T, CYP21A2 haplotypes...

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Publicat a:Eur J Hum Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5477366/
https://ncbi.nlm.nih.gov/pubmed/28401898
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.38
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