Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

doi:10.1136/jmg.28.4.241

Back to search

Article

Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

Journal of medical genetics - 1 Apr 1991

Sebastio G, de Franchis R, Strisciuglio P, Andria G, Dionisi Vici C, Sabetta G, Gatti R, Cross N C, Cox T M

Abstract excerpt

Hereditary fructose intolerance (HFI) is an inborn error of metabolism caused by aldolase B deficiency. The aldolase B gene has been cloned and the following mutations causing HFI have been identified: A149P (a G----C transversion in exon 5), A174D (a C----A transversion in exon 5), L288 delta C...

Topics

Base Sequence
DNA
Exons
Fructose Intolerance
Fructose-Bisphosphate Aldolase
Heterozygote
Homozygote
Humans
Italy
Molecular Sequence Data
Mutation
Polymerase Chain Reaction

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.