A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene.
Lissens
W
W
Department of Medical Genetics, Akademisch Ziekenhuis, Vrije Universiteit Brussel, Belgium.
Bonduelle
M
M
Malfroot
A
A
Dab
I
I
Liebaers
I
I
D000255:Adenosine Triphosphate / Q000378:metabolism; D001483:Base Sequence; D001665:Binding Sites; D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D005787:Gene Frequency; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011392:Proline; D012694:Serine
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D012694:Serine; D000255:Adenosine Triphosphate; D011392:Proline