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Article

Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease.

American journal of human genetics - 1 Jan 1992

Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y, Tal A, Seret H, Yaar L, Kerem E

Abstract excerpt

Only about 30% of the cystic fibrosis chromosomes in the Israeli cystic fibrosis patient populations carry the major CF mutation (delta F508). Since different Jewish ethnic groups tended to live as closed isolates until recent times, high frequencies of specific mutations are expected among the remainder cystic fibrosis chromosomes of these ethnic groups. Genetic factors appear to influence the severity of the...

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Identifiers

PMID: 1370365
PMCID: PMC1682509

Genes

CFTR

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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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Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease.PMID 1370365Read ↗

Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.Semantic proximity Read ↗

Difference in frequencies of the cystic fibrosis alleles, delta F508 and W1282X, between carriers and patients.Semantic proximity Read ↗

Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel.Semantic proximity Read ↗

Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.Semantic proximity Read ↗

Cystic fibrosis in Jews: frequency and mutation distribution.Semantic proximity Read ↗

Prevalence of cystic fibrosis mutations in Israeli Jews.Semantic proximity Read ↗

High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia.Semantic proximity Read ↗

Preimplantation diagnosis of cystic fibrosis by simultaneous detection of the W1282X and delta F508 mutations.Semantic proximity Read ↗

Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel.Semantic proximity Read ↗

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.Semantic proximity Read ↗

A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.Semantic proximity Read ↗

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