High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.

High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.

The systematic study of the human genome indicates that the inter-individual variability is greater than expected and it is not only related to sequence polymorphisms but also to gene copy number variants (CNVs). Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD) is the most com...

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Bibliographic Details
Main Authors: Silvia Parajes, Celsa Quinteiro, Fernando Domínguez, Lourdes Loidi
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2008-05-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC2364643?pdf=render

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