Identification of a novel mutation (525del T) in exon 4 of the CFTR gene in a patient with cystic fibrosis.
Kusic
J
J
Institute of Molecular Genetic and Genetic Engineering, P.O.Box 794, Belgrade, Yugoslavia.
Radojkovic
D
D
Cuppens
H
H
Jaspers
M
M
Tomic
J
J
Savic
A
A
D001483:Base Sequence; D002648:Child; D002897:Chromosomes, Human, Pair 7; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator