CFTR gene variant for patients with congenital absence of vas deferens.

American journal of human genetics ·Vol. 57 ·No. 4 ·1995-10-00 ·Pages 958-60

Zielenski J, Patrizio P, Corey M, Handelin B, Markiewicz D, Asch R, Tsui LC

Abstract

暂无摘要

MeSH Terms

Cystic Fibrosis/genetics Cystic Fibrosis Transmembrane Conductance Regulator/genetics DNA/analysis Genotype Humans Male Mutation Vas Deferens/abnormalities

Chemicals

CFTR protein, human Cystic Fibrosis Transmembrane Conductance Regulator DNA

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Zielenski J

Patrizio P

Corey M

Handelin B

Markiewicz D

Asch R

Tsui L C

References (15)

15 references, click to expand

Autosomal recessive hereditary congenital aplasia of the vasa deferentia in four siblings.
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Genital abnormalities in male patients with cystic fibrosis.
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Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients.
Cell. 1990 Jun 1;61(5):863-70 PMID: 2344617
Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens.
Lancet. 1990 Aug 25;336(8713):512 PMID: 1975022
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Genomics. 1991 May;10(1):229-35 PMID: 1710599
Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.
JAMA. 1992 Apr 1;267(13):1794-7 PMID: 1545465
Genetic determination of exocrine pancreatic function in cystic fibrosis.
Am J Hum Genet. 1992 Jun;50(6):1178-84 PMID: 1376016
High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens.
N Engl J Med. 1993 Feb 11;328(6):446-7 PMID: 8421472
Aetiology of congenital absence of vas deferens: genetic study of three generations.
Hum Reprod. 1993 Feb;8(2):215-20 PMID: 8473422
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.
Nat Genet. 1993 Feb;3(2):151-6 PMID: 7684646
Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens.
Hum Mol Genet. 1993 Oct;2(10):1605-9 PMID: 7505692
A mutation in CFTR produces different phenotypes depending on chromosomal background.
Nat Genet. 1993 Nov;5(3):274-8 PMID: 7506096
Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens.
Hum Genet. 1994 Apr;93(4):467-70 PMID: 7513294
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
N Engl J Med. 1995 Jun 1;332(22):1475-80 PMID: 7739684
Congenital absence of the vasa deferentia presenting with infertility.
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Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1995-10-00

Pages

958-60

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1801510

Subset

External Links

PubMed source PMC Full Text View journal details

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CFTR gene variant for patients with congenital absence of vas deferens.

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