Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: Identification of 12 novel mutations

Genetic Testing

Volumn 5, Issue 3, 2001, Pages 235-242

  Strandvik, Bigitta ^a   Zielenski, Julian ^a   Björck, Eva ^a   Fallström, Marie ^a   Gronowitz, Eva ^b   Thountzouris, John ^a   Lindblad, Anders ^a,b   Wahlström, Jan ^a,b   Tsui, Lap Chee ^b  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; CYSTIC FIBROSIS; DISEASE SEVERITY; ETHNIC DIFFERENCE; FEMALE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MUTATION RATE; PHENOTYPE; POPULATION RISK; SWEDEN;

ADULT; CHILD, PRESCHOOL; CODON, NONSENSE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; INFANT; MUTATION; MUTATION, MISSENSE; PHENOTYPE; SWEDEN;

EID: 18244405370     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/10906570152742290     Document Type: Article

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