Distribution of CFTR mutations in Saguenay-Lac-Saint-Jean: Proposal of a panel of mutations for population screening

Genetics in Medicine

Volumn 10, Issue 3, 2008, Pages 201-206

  Madore, Anne Marie ^a,b,c   Prévost, Claude ^d   Dorfman, Ruslan ^e   Taylor, Chelsea ^e   Durie, Peter ^e   Zielenski, Julian ^e   Laprise, Catherine ^b,c  

^a UNIVERSITÉ LAVAL   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

^c UNIVERSITÉ DU QUÉBEC À CHICOUTIMI   (Canada)

^d Gouvernement du Quebec   (Canada)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Carrier screening; CFTR; Cystic fibrosis; Mutations; Saguenay Lac Saint Jean

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MASS SCREENING;

CHILD; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; INCIDENCE; MUTATION; PHENOTYPE; QUEBEC;

EID: 40949119473     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e318164cb1c     Document Type: Article

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