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Article

Genetic analysis of Hispanic individuals with cystic fibrosis.

American journal of human genetics - 1 Mar 1994

Grebe T A, Seltzer W K, DeMarchi J, Silva D K, Doane W W, Gozal D, Richter S F, Bowman C M, Norman R A, Rhodes S N

Abstract excerpt

We have performed molecular genetic analyses of Hispanic individuals with cystic fibrosis (CF) in the southwestern United States. Of 129 CF chromosomes analyzed, only 46% (59/129) carry delta F508. The G542X mutation was found on 5% (7/129) of CF chromosomes. The 3849 + 10kbC-->T mutation, detected primarily in Ashkenazi Jews, was present on 2% (3/129). R1162X and R334W, mutations identified in Spain and Italy,...

Topics

Amino Acid Sequence
California
Chromosomes, Human
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Genotype
Haplotypes
Hispanic or Latino
Humans
Membrane Proteins
Mexico

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Point Mutation

Southwestern United States

Source

Open in PubMed Open full text

Identifiers

PMID: 7509564
PMCID: PMC1918116

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7509564-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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