Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens. (Q53748040)

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scientific article published in April 1994

Language	Label	Description	Also known as
English	Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens.	scientific article published in April 1994

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

19 May 2018

http://europepmc.org/abstract/MED/7513294

Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens. (English)

1 reference

Europe PubMed Central

PubMed publication ID

19 May 2018

http://europepmc.org/abstract/MED/7513294

author name string

J F Culard

1

1 reference

Europe PubMed Central

PubMed publication ID

19 May 2018

http://europepmc.org/abstract/MED/7513294

M Desgeorges

2

1 reference

Europe PubMed Central

PubMed publication ID

19 May 2018

http://europepmc.org/abstract/MED/7513294

P Costa

3

1 reference

Europe PubMed Central

PubMed publication ID

19 May 2018

http://europepmc.org/abstract/MED/7513294

M Laussel

4

1 reference

Europe PubMed Central

PubMed publication ID

19 May 2018

http://europepmc.org/abstract/MED/7513294

G Razakatzara

5

1 reference

Europe PubMed Central

PubMed publication ID

19 May 2018

http://europepmc.org/abstract/MED/7513294

H Navratil

6

1 reference

Europe PubMed Central

PubMed publication ID

19 May 2018

http://europepmc.org/abstract/MED/7513294

J Demaille

7

1 reference

Europe PubMed Central

PubMed publication ID

19 May 2018

http://europepmc.org/abstract/MED/7513294

M Claustres

8

1 reference

Europe PubMed Central

PubMed publication ID

19 May 2018

http://europepmc.org/abstract/MED/7513294

publication date

1 April 1994

1 reference

Europe PubMed Central

PubMed publication ID

19 May 2018

http://europepmc.org/abstract/MED/7513294

1 reference

Europe PubMed Central

PubMed publication ID

19 May 2018

http://europepmc.org/abstract/MED/7513294

93

1 reference

Europe PubMed Central

PubMed publication ID

19 May 2018

http://europepmc.org/abstract/MED/7513294

4

1 reference

Europe PubMed Central

PubMed publication ID

19 May 2018

http://europepmc.org/abstract/MED/7513294

467-470

1 reference

Europe PubMed Central

PubMed publication ID

19 May 2018

http://europepmc.org/abstract/MED/7513294

The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid nonradioactive detection of the major cystic fibrosis mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital absence of the vas deferens. The fertilizing capacity of human epididymal sperm

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CFTR expression is regulated during both the cycle of the seminiferous epithelium and the oestrous cycle of rodents.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genital abnormalities in male patients with cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of over 98% cystic fibrosis mutations in a Celtic population

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513294

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00201678

1 reference

Europe PubMed Central

PubMed publication ID

19 May 2018

http://europepmc.org/abstract/MED/7513294

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

19 May 2018

http://europepmc.org/abstract/MED/7513294

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