Literature DB >> 1282900

A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

M Chillón1, A Palacio, V Nunes, X Estivill.   

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Year:  1992        PMID： 1282900     DOI： 10.1007/BF00220483

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  2 in total

1.  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.  Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Authors:  J Zielenski; R Rozmahel; D Bozon; B Kerem; Z Grzelczak; J R Riordan; J Rommens; L C Tsui
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736
  2 in total
  2 in total

1.  Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.

Authors:  Ingrid K Svenson; Mark T Kloos; P Craig Gaskell; Martha A Nance; James Y Garbern; Shin-ichi Hisanaga; Margaret A Pericak-Vance; Allison E Ashley-Koch; Douglas A Marchuk
Journal:  Neurogenetics       Date:  2004-07-10       Impact factor: 2.660

2.  Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.

Authors:  T Dörk; F Mekus; K Schmidt; J Bosshammer; R Fislage; T Heuer; V Dziadek; T Neumann; N Kälin; U Wulbrand
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132
  2 in total

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