A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant death.
Ivaschenko
T E
TE
Laboratory of Prenatal Diagnosis of Inherited Diseases, All-Union Center for Prenatal Diagnosis of Cystic Fibrosis, Leningrad, USSR.
White
M B
MB
Dean
M
M
Baranov
V S
VS
D002872:Chromosome Deletion; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000401:mortality; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis; D014586:USSR
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator