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Article

The CFTR Met 470 allele is associated with lower birth rates in fertile men from a population isolate.

PLoS genetics - 3 Jun 2010

Kosova Gülüm, Pickrell Joseph K, Kelley Joanna L, McArdle Patrick F, Shuldiner Alan R, Abney Mark, Ober Carole

Abstract excerpt

Although little is known about the role of the cystic fibrosis transmembrane regulator (CFTR) gene in reproductive physiology, numerous variants in this gene have been implicated in etiology of male infertility due to congenital bilateral absence of the vas deferens (CBAVD). Here, we studied the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20532200
DOI: 10.1371/journal.pgen.1000974
PMCID: PMC2880556

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20532200-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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The CFTR Met 470 allele is associated with lower birth rates in fertile men from a population isolate.PMID 20532200Read ↗

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Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

Molecular pathology of the CFTR locus in male infertility.Semantic proximity Read ↗

The role of CFTR p.G970D missense mutation in male infertility.Semantic proximity Read ↗

Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.Semantic proximity Read ↗

Cystic fibrosis and fertility.Semantic proximity Read ↗

Enhanced frequency of CFTR gene variants in couples who are candidates for assisted reproductive technology treatment.Semantic proximity Read ↗

CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.Semantic proximity Read ↗

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.Semantic proximity Read ↗

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