Literature DB >> 1379211

A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis.

M Claustres1, B Gerrard, M B White, M Desgeorges, P Kjellberg, B Rollin, M Dean.   

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Year:  1992        PMID： 1379211     DOI： 10.1016/0888-7543(92)90187-w

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


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  3 in total

1.  Rapid detection of single nucleotide deletions: application to the beta 6 (-A) mutation of the beta-globin gene and to cystic fibrosis.

Authors:  M C Romey; P Aguilar-Martinez; J Demaille; M Claustres
Journal:  Hum Genet       Date:  1993-12       Impact factor: 4.132

2.  Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis.

Authors:  C Verlingue; B Mercier; I Lecoq; M P Audrézet; D Laroche; G Travert; C Férec
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

3.  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
  3 in total

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