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Partial aldolase B gene deletions in hereditary fructose intolerance.

Hereditary fructose intolerance (HFI) is an autosomal recessive condition caused by a deficiency of aldolase B. We have recently shown that three point mutations in this gene account for approximately 85% of HFI alleles in Europe and the United States and are thus of diagnostic importance. In this p...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Cross, N C, Cox, T M
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1990
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683764/
https://ncbi.nlm.nih.gov/pubmed/2349937
Tagiau: Ychwanegu Tag
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