A large-scale study of the random variability of a coding sequence: A study on the CFTR gene

European Journal of Human Genetics

Volumn 13, Issue 2, 2005, Pages 184-192

  Modiano, Guido ^a   Bombieri, Cristina ^b   Ciminelli, Bianca Maria ^a   Belpinati, Francesca ^b   Giorgi, Silva ^a   de Georges, Marie ^c   Scotet, Virginie ^d   Pompei, Fiorenza ^a   Ciccacci, Cinzia ^a   Guittard, Caroline ^c   Audrézet, Marie Pierre ^d   Begnini, Angela ^b   Toepfer, Michael ^e   Macek Jr , Milan ^e   Ferec, Claude ^d   Claustres, Mireille ^c   Pignatti, Pier Franco ^b  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c UNIV MONTPELLIER   (France)

^d CDTS   (France)

^e CHARLES UNIVERSITY   (Czech Republic)

Author keywords

CFTR gene; Common vs rare alleles; Synonymous and nonsynonymous variability

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; EUROPE; GENETIC DRIFT; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; PROBABILITY; RANDOMIZATION;

ALLELES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENES, RECESSIVE; GENETIC SCREENING; HUMANS; MALE; MODELS, GENETIC; OPEN READING FRAMES; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 13544277667     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201306     Document Type: Article

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