Homozygosity for a novel missense mutation (I175V) in exon 5 of the CFTR gene in a family of Armenian descent.
Romey
M C
MC
Laboratoire de Biochimie Génétique, CNRS UPR-9008, INSERM U249, Institut de Biologie, Montpellier, France.
Desgeorges
M
M
Malzac
P
P
Sarles
J
J
Demaille
J
J
Claustres
M
M
D001136:Armenia / Q000208:ethnology; D001483:Base Sequence; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D004591:Electrophoresis, Polyacrylamide Gel; D005006:Ethnicity / Q000235:genetics; D005091:Exons; D005260:Female; D005602:France; D005796:Genes; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator