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

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 (a...

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Detalhes bibliográficos
Main Authors: Sebastio, G, de Franchis, R, Strisciuglio, P, Andria, G, Dionisi Vici, C, Sabetta, G, Gatti, R, Cross, N C, Cox, T M
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016824/
https://ncbi.nlm.nih.gov/pubmed/1856829
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