Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens (Q57304650)

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8 November 2019

title

Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens (English)

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8 November 2019

9

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Xavier Estivill i Pallejà

8 November 2019

11

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8 November 2019

author name string

T Casals

1

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8 November 2019

L Bassas

2

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8 November 2019

S Egozcue

3

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8 November 2019

M D Ramos

4

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8 November 2019

J Giménez

5

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8 November 2019

A Segura

6

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8 November 2019

F Garcia

7

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8 November 2019

M Carrera

8

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8 November 2019

J Sarquella

10

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8 November 2019

language of work or name

English

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publication date

1 July 2000

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8 November 2019

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8 November 2019

volume

15

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8 November 2019

page(s)

1476-1483

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8 November 2019

issue

7

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Congenital bilateral absence of vas deferens in the absence of cystic fibrosis

8 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2F15.7.1476

Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2F15.7.1476

High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2F15.7.1476

Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2F15.7.1476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2F15.7.1476

Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2F15.7.1476

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2F15.7.1476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2F15.7.1476

Identification of the cystic fibrosis gene: genetic analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2F15.7.1476

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2F15.7.1476

Seminal plasma alpha-glucosidase activity and male infertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2F15.7.1476

Mutations of the cystic fibrosis gene in patients with chronic pancreatitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2F15.7.1476

21 January 2018

Identifiers

DOI

10.1093/HUMREP/15.7.1476

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8 November 2019

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