Is CFTR 621+3 A>G a cystic fibrosis causing mutation?

Journal of Human Genetics

Volumn 55, Issue 1, 2010, Pages 23-26

  Forzan, Monica ^a   Salviati, Leonardo ^a   Pertegato, Vanessa ^a   Casarin, Alberto ^a   Bruson, Alice ^a   Trevisson, Eva ^a   Di Gianantonio, Elena ^a   Clementi, Maurizio ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

Cystic fibrosis; Hybrid minigene; Population screening; Splicing

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; AGENESIS; ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GONADAL AGENESIS; HELA CELL; HETEROZYGOTE; HUMAN; HUMAN CELL; HYBRID GENE; INTRON; PATHOGENICITY; RNA SPLICING; VAS DEFERENS;

CHILD; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENE FREQUENCY; HELA CELLS; HETEROZYGOTE; HUMANS; INFERTILITY, MALE; ITALY; MALE; MUTATION; RNA SPLICING; VAS DEFERENS;

EID: 76149106495     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2009.115     Document Type: Article

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