An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels.
Smit
L S
LS
Department of Human Genetics, University of Michigan, Ann Arbor 48109.
Nasr
S Z
SZ
Iannuzzi
M C
MC
Collins
F S
FS
D000328:Adult; D001483:Base Sequence; D044383:Black People / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics* / Q000378:metabolism; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006720:Homozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D010641:Phenotype; D012333:RNA, Messenger / Q000235:genetics* / Q000378:metabolism; D001741:Black or African American
C505032:CFTR protein, human; D008565:Membrane Proteins; D012333:RNA, Messenger; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA