A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis.
Yoshimura
K
K
Wakazono
Y
Y
Iizuka
S
S
Morokawa
N
N
Tada
H
H
Eto
Y
Y
D000293:Adolescent; D003241:Consanguinity; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007564:Japan; D020125:Mutation, Missense; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator