Successful DNA-based prenatal diagnosis of the 728+1 g-->t mutation at the exon 6-intron 6 junction in the carbonic anhydrase II gene.
Islam
M R
MR
Strisciuglio
P
P
Bonapace
G
G
Sly
W S
WS
D000328:Adult; D002256:Carbonic Anhydrases / Q000172:deficiency / Q000235:genetics*; D017931:DNA Primers; D005091:Exons; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007438:Introns; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis
D017931:DNA Primers; D002256:Carbonic Anhydrases