CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens (Q45878534)

17 December 2017

title

CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens (English)

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17 December 2017

author name string

Chieko Anzai

1

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17 December 2017

Nasa Morokawa

2

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17 December 2017

Hiroshi Okada

3

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17 December 2017

Sadao Kamidono

4

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17 December 2017

Yoshikatsu Eto

5

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17 December 2017

Kunihiko Yoshimura

6

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17 December 2017

publication date

1 March 2003

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17 December 2017

Journal of Cystic Fibrosis

published in

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17 December 2017

volume

2

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17 December 2017

issue

1

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17 December 2017

page(s)

14-18

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17 December 2017

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

1 reference

7 January 2021

Cystic fibrosis: a multiple exocrinopathy caused by dysfunctions in a multifunctional transport protein

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https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

The cystic fibrosis transmembrane conductance regulator gene

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https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

Genotype and phenotype in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

The estimated incidence of cystic fibrosis in Japan

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

Severe cystic fibrosis associated with a deltaF508/R347H + D979A compound heterozygous genotype

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

Identification of novel mutations of the CFTR gene in a Japanese patient with cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

Severe cystic fibrosis in a Japanese girl caused by two novel CFTR (ABCC7) gene mutations: M152R and 1540del10.

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis

1 reference

https://api.crossref.org/works/10.1016%2FS1569-1993%2802%2900144-3

7 January 2021

10.1016/S1569-1993(02)00144-3

Identifiers

DOI

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17 December 2017

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17 December 2017