Homozygosity for a novel splice site mutation (2790-2 A→G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent-Reference-Cited by-同舟云学术

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Homozygosity for a novel splice site mutation (2790-2 A→G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent

Published:1995-04 Issue:2 Volume:9 Page:139-141
ISSN:0890-8508
Container-title:Molecular and Cellular Probes
language:en
Short-container-title:Molecular and Cellular Probes

Author:

Marigo Cristina,Bombieri Cristina,Bisceglia L.,Zelante L.,Gasparini P.,Pignatti Pier Franco

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology

Reference16 articles.

1. Population variation of common cystic fibrosis mutations;The Cystic Fibrosis Genetic Analysis Consortium;Human Molecular Genetics,1994

2. Screening of 62 mutations in a cohort of cystic fibrosis patients from North-Eastern Italy: their incidence and clinical features of defined genotypes;Gasparini;Human Mutation,1993

3. 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;Bonizzato;Human Genetics,1994

4. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice junctions;Fanen;Genomics,1992

5. Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP;Sakar;Nucleic Acids Research,1992

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