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Article

Characterization of the CYP21 gene 5' flanking region in patients affected by 21-OH deficiency.

Human mutation - 1 May 2000

Bobba A, Marra E, Lattanzio P, Iolascon A, Giannattasio S

Abstract excerpt

In order to test the hypothesis that mutations in the 5' non-coding region of CYP21 gene could contribute to the various spectrum of disease presentation due to 21-OH deficiency, the 400bp nucleotide sequence upstream of the ATG codon of CYP21 gene has been characterized in 28 CAH patients who have previously been genotyped by screening for the ten most frequent CYP21 mutations. Six specific sequence variations...

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Identifiers

PMID: 10790214
DOI: 10.1002/(SICI)1098-1004(200005)15:5<481::AID-HUMU14>3.0.CO;2-A

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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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