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Article

Association of HLA alleles and haplotypes with CYP21A2 gene p. V282L mutation in the Croatian population.

HLA - 1 Nov 2016

Grubic Z, Maskalan M, Stingl Jankovic K, Zvecic S, Dumic Kubat K, Krnic N, Zunec R, Ille J, Kusec V, Dumic M

Abstract excerpt

The CYP21A2 mutations that are in linkage disequilibrium with particular HLA-A, -B, -DRB1 alleles/haplotypes, cause deficiency of the 21-hydroxylase enzyme (21-OHD) and account for the majority of congenital adrenal hyperplasia (CAH) cases. The aim of this study was to investigate those associations with the p.V282L mutation linked to the non-classical (NC) form of CAH among Croatians. The study included parents...

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Identifiers

PMID: 27709802
DOI: 10.1111/tan.12907

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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