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Article

Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings.

Clinical genetics - 1 Feb 1995

Orozco L, Lezana J L, Villarreal M T, Chávez M, Carnevale A

Abstract excerpt

We describe three delta-F508/G551S compound heterozygous siblings with a mild CF phenotype, characterized by mild chronic pulmonary disease, pancreatic sufficiency and increased sweat chloride levels. PCR-mediated site-directed mutagenesis detected the delta-F508 mutation on one allele, and the G551S mutation was detected by SSCP and sequence analysis of exon 11. Two previously described sisters who were...

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Identifiers

PMID: 7606851
DOI: 10.1111/j.1399-0004.1995.tb03931.x

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

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