A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype

Human Genetics

Volumn 100, Issue 2, 1997, Pages 220-223

  Hergersberg, Martin ^a   Balakrishnan, Jaya ^a   Bettecken, Thomas ^b   Chevalier Porst, Francoise ^c   Brägger, Christian ^b   Burger, René ^b   Einschenk, Inge ^a   Liechti Gallati, Sabina ^b   Morris, Michael ^d   Schorderet, Daniel ^e   Thonney, Francine ^e   Moser, Hans ^b   Malik, Naseem ^f  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b Universitats Kinderklinik   (Switzerland)

^c HÔPITAL DEBROUSSE   (France)

^d HUG   (Switzerland)

^e Division Autonome de Genetique Medicale   (Switzerland)

^f UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; DISEASE SEVERITY; EXON; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; PANCREAS INSUFFICIENCY; PHENOTYPE; PRIORITY JOURNAL; SWITZERLAND;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA PRIMERS; FOUNDER EFFECT; GENE FREQUENCY; GENETIC SCREENING; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SWITZERLAND;

EID: 0030739769     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050494     Document Type: Article

References (16)

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