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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: Sebastio, G, de Franchis, R, Strisciuglio, P, Andria, G, Dionisi Vici, C, Sabetta, G, Gatti, R, Cross, N C, Cox, T M
Format: Artigo
Jezik:Inglês
Izdano: 1991
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016824/
https://ncbi.nlm.nih.gov/pubmed/1856829
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items