Literature DB >> 1384326

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

M Macek, L Ladanyi, J Bürger, A Reis.   

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Year:  1992        PMID: 1384326      PMCID: PMC1682853     

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


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  4 in total

1.  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

2.  Rapid nonradioactive detection of the major cystic fibrosis mutation.

Authors:  J Rommens; B S Kerem; W Greer; P Chang; L C Tsui; P Ray
Journal:  Am J Hum Genet       Date:  1990-02       Impact factor: 11.025

3.  Identification of the cystic fibrosis gene: genetic analysis.

Authors:  B Kerem; J M Rommens; J A Buchanan; D Markiewicz; T K Cox; A Chakravarti; M Buchwald; L C Tsui
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

4.  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

  4 in total
  2 in total

1.  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

2.  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.

Authors:  D Meschede; A Eigel; J Horst; E Nieschlag
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

  2 in total

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