Assessing the disease-liability of mutations in CFTR

Cold Spring Harbor Perspectives in Medicine

Volumn 2, Issue 12, 2012, Pages

  Ferec, Claude ^a   Cutting, Garry R ^b  

^a UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EPITHELIAL SODIUM CHANNEL; DIAGNOSTIC AGENT;

ALLELE; ARTICLE; BRONCHIECTASIS; CAUCASIAN; CHRONIC PANCREATITIS; CODON; CYSTIC FIBROSIS; DISEASE PREDISPOSITION; GENE MUTATION; GENETIC DISORDER; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GEOGRAPHIC DISTRIBUTION; HUMAN; INTRON; MECONIUM ILEUS; NEWBORN SCREENING; NONSENSE MEDIATED MRNA DECAY; PANCREAS INSUFFICIENCY; PHENOTYPE; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS; STRUCTURE ANALYSIS; CONGENITAL MALFORMATION; GENETICS; METHODOLOGY; MUTATION; NEWBORN; UROGENITAL TRACT DISEASE; VAS DEFERENS;

BRONCHIECTASIS; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENOTYPE; HUMANS; INFANT, NEWBORN; MALE UROGENITAL DISEASES; MUTATION; NEONATAL SCREENING; PANCREATITIS, CHRONIC; PHENOTYPE; PRENATAL DIAGNOSIS; VAS DEFERENS;

EID: 84877587139     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a009480     Document Type: Article

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