Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent.
Saba
L
L
Istituto di Clinica e Biologia dell'Età Evolutiva, Università degli Studi di Cagliari, Italy.
Leoni
G B
GB
Meloni
A
A
Faà
V
V
Cao
A
A
Rosatelli
M C
MC
D001483:Base Sequence; D018118:Chloride Channels / Q000235:genetics*; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D005091:Exons; D005796:Genes; D006801:Humans; D007558:Italy; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation
C505032:CFTR protein, human; D018118:Chloride Channels; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator