Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient.
Gouya
L
L
Laboratoire de Biochimie Génétique, Hôpital Robert Debré, Paris, France.
Pascaud
O
O
Munck
A
A
Elion
J
J
Denamur
E
E
D000293:Adolescent; D000462:Algeria; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers; D019281:Dimerization; D005091:Exons; D005260:Female; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
C505032:CFTR protein, human; D017931:DNA Primers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator