Literature DB >> 7562977

High incidence of delta I507 mutation of the CFTR gene in a limited area of the north west of France.

H Mittre, P Leymarie, N Leporrier.   

Abstract

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Year:  1995        PMID： 7562977      PMCID： PMC1050560          DOI： 10.1136/jmg.32.7.577

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 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.  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

3.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Authors:  J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

4.  Identification of the cystic fibrosis gene: chromosome walking and jumping.

Authors:  J M Rommens; M C Iannuzzi; B Kerem; M L Drumm; G Melmer; M Dean; R Rozmahel; J L Cole; D Kennedy; N Hidaka
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

5.  Mutation analysis in 600 French cystic fibrosis patients.

Authors:  F Chevalier-Porst; A M Bonardot; R Gilly; J P Chazalette; M Mathieu; D Bozon
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318
  5 in total
  1 in total

1.  Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein.

Authors:  Lihua He; Pradeep Kota; Andrei A Aleksandrov; Liying Cui; Tim Jensen; Nikolay V Dokholyan; John R Riordan
Journal:  FASEB J       Date:  2012-10-26       Impact factor: 5.191
  1 in total

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