Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21.
Shoshani
T
T
Department of Genetics, Life Sciences Institute, Hebrew University of Jerusalem.
Augarten
A
A
Yahav
J
J
Gazit
E
E
Kerem
B
B
D001483:Base Sequence; D002648:Child; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D005796:Genes; D006801:Humans; D007585:Jews / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator