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Article

Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency.

Revista do Hospital das Clinicas - 1 Dec 2004

Cukier Priscilla, Bachega Tânia A S S, Mendonça Berenice B, Billerbeck Ana Elisa C

Abstract excerpt

PURPOSE: To establish the Southern blotting technique using hybridization with a nonradioactive probe to detect large rearrangements of CYP21A2 in a Brazilian cohort with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH-21OH). METHOD: We studied 42 patients, 2 of them related, comprising 80 non-related alleles. DNA samples were obtained from peripheral blood, digested by restriction enzyme Taq...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15654491
DOI: 10.1590/s0041-87812004000600010

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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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