Literature DB >> 1675008

A HinfI polymorphism in the cystic fibrosis gene CFTR.

T Dörk1, U Wulbrand, B Tümmler.   

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Year:  1991        PMID： 1675008      PMCID： PMC329488          DOI： 10.1093/nar/19.9.2517-a

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  2 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: 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
  2 in total
  6 in total

1.  Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.

Authors:  T Dörk; T Neumann; U Wulbrand; B Wulf; N Kälin; G Maass; M Krawczak; H Guillermit; C Ferec; G Horn
Journal:  Hum Genet       Date:  1992-02       Impact factor: 4.132

2.  Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations.

Authors:  A Bonizzato; L Bisceglia; C Marigo; E Nicolis; C Bombieri; C Castellani; G Borgo; L Zelante; G Mastella; G Cabrini
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

3.  Cystic fibrosis in a Puerto Rican female homozygous for the R1066C mutation.

Authors:  M H Liang; L J Wong; D Klein; B Shapiro; C M Bowman; E Hsu; L J Wong
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

4.  Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.

Authors:  J Zielenski; T M Fujiwara; D Markiewicz; A J Paradis; A I Anacleto; B Richards; R H Schwartz; K W Klinger; L C Tsui; K Morgan
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025

5.  Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20.

Authors:  I Dorval; S Odent; P Jezequel; H Journel; B Chauvel; A Dabadie; M Roussey; J Y Le Gall; B Le Marec; V David
Journal:  Hum Genet       Date:  1993-04       Impact factor: 4.132

6.  Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.

Authors:  N Morral; R Llevadot; T Casals; P Gasparini; M Macek; T Dörk; X Estivill
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025
  6 in total

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