Literature DB >> 7686336

Compound heterozygosity for the delta F508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens.

D Meschede, A Eigel, J Horst, E Nieschlag.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1993        PMID： 7686336      PMCID： PMC1682253     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


× No keyword cloud information.
  5 in total

1.  Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation.

Authors:  M Macek; L Ladanyi; J Bürger; A Reis
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

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

Authors:  B S Kerem; J Zielenski; D Markiewicz; D Bozon; E Gazit; J Yahav; D Kennedy; J R Riordan; F S Collins; J M Rommens
Journal:  Proc Natl Acad Sci U S A       Date:  1990-11       Impact factor: 11.205

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

Authors:  S J Silber; T Ord; J Balmaceda; P Patrizio; R H Asch
Journal:  N Engl J Med       Date:  1990-12-27       Impact factor: 91.245

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

Authors:  A Anguiano; R D Oates; J A Amos; M Dean; B Gerrard; C Stewart; T A Maher; M B White; A Milunsky
Journal:  JAMA       Date:  1992-04-01       Impact factor: 56.272

5.  Benign missense variations in the cystic fibrosis gene.

Authors:  K Kobayashi; M R Knowles; R C Boucher; W E O'Brien; A L Beaudet
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025
  5 in total
  4 in total

1.  Distinguishing genetic from nongenetic medical tests: some implications for antidiscrimination legislation.

Authors:  Joseph S Alper; Jon Beckwith
Journal:  Sci Eng Ethics       Date:  1998-04       Impact factor: 3.525

2.  A healthy male with compound and double heterozygosities for delta F508, F508C, and M47OV in exon 10 of the cystic fibrosis gene.

Authors:  M Desgeorges; P Kjellberg; J Demaille; M Claustres
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

3.  Update and Review: Cystic Fibrosis.

Authors:  T Brown; E L Schwind
Journal:  J Genet Couns       Date:  1999-06       Impact factor: 2.537

4.  Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype.

Authors:  V Dumur; R Gervais; J M Rigot; E Delomel-Vinner; B Decaestecker; J J Lafitte; P Roussel
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.