Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability.
Alghisi
Federico
F
Bella
Sergio
S
Lucidi
Vincenzina
V
Angioni
Adriano
A
Tomaiuolo
Anna C
AC
D'Apice
Maria R
MR
Gambardella
Stefano
S
Novelli
Giuseppe
G
D002648:Child; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010195:Pancreatitis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator