Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance.
Ali
M
M
Department of Medicine, University of Cambridge, Addenbrooke's Hospital, UK.
Sebastio
G
G
Cox
T M
TM
D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D017931:DNA Primers; D005091:Exons; D005260:Female; D005633:Fructose Intolerance / Q000201:enzymology / Q000235:genetics*; D005634:Fructose-Bisphosphate Aldolase / Q000235:genetics*; D006801:Humans; D007527:Isoenzymes / Q000235:genetics; D007930:Leucine; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011392:Proline; D015183:Restriction Mapping
D017931:DNA Primers; D007527:Isoenzymes; D011392:Proline; D005634:Fructose-Bisphosphate Aldolase; D007930:Leucine