Three novel mutations (I506S, S466X, 1651A-->T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of southern German descent.
Deufel
A
A
Abteilung für pädiatrische Genetik, Ludwigs-Maximilians-Universität, Munich, Germany.
Deufel
T
T
Golla
A
A
Achatz
H
H
Bertele-Harms
R
R
Roscher
A A
AA
Meitinger
T
T
D000293:Adolescent; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005796:Genes / Q000235:genetics; D005820:Genetic Testing; D005858:Germany; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009692:Nucleic Acid Heteroduplexes; D016133:Polymerase Chain Reaction; D044465:White People / Q000235:genetics*
C505032:CFTR protein, human; D008565:Membrane Proteins; D009692:Nucleic Acid Heteroduplexes; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA