Carregant...

A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

BACKGROUND: Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH). A patient showing few of the symptoms associated with the disease, was found to be a compound heterozygote for a splice mutation, IVS6-1g->t,...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Dreumont, Natacha, Poudrier, Jacques A, Bergeron, Anne, Levy, Harvey L, Baklouti, Faouzi, Tanguay, Robert M
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2001
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC35353/
https://ncbi.nlm.nih.gov/pubmed/11476670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2156-2-9
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!