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Article

Genes, pseudogenes and like genes: the case of 21-hydroxylase in Italian population.

Clinica chimica acta; international journal of clinical chemistry - 23 Sept 2013

Concolino Paola, Mello Enrica, Minucci Angelo, Giardina Bruno, Capoluongo Ettore

Abstract excerpt

BACKGROUNDS: Recently, we have considered two new findings in genetics of 21-hydroxylase deficiency with great interested: the existence of rare RCCX trimodular haplotypes, where the CYP21A2 like-gene downstream of the TNXA gene carries from one to six pseudogene mutations, and population specific allelic frequencies of wild-type CYP21A2 loci in the CYP21A1P pseudogene. Both these events represent a further...

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Identifiers

PMID: 23721949
DOI: 10.1016/j.cca.2013.05.019

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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