High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency

BACKGROUND: 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...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Parajes, Silvia, Quinteiro, Celsa, Domínguez, Fernando, Loidi, Lourdes
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2008
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2364643/
https://ncbi.nlm.nih.gov/pubmed/18478071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0002138
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