Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1
about
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type IA comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK.Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentionsDeficient DNA-ligase activity in the metabolic disease tyrosinemia type I.Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease
P2860
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1
description
1994 nî lūn-bûn
@nan
1994 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Novel splice, missense, and no ...... ene causing tyrosinemia type 1
@ast
Novel splice, missense, and no ...... ene causing tyrosinemia type 1
@en
Novel splice, missense, and no ...... ene causing tyrosinemia type 1
@nl
type
label
Novel splice, missense, and no ...... ene causing tyrosinemia type 1
@ast
Novel splice, missense, and no ...... ene causing tyrosinemia type 1
@en
Novel splice, missense, and no ...... ene causing tyrosinemia type 1
@nl
prefLabel
Novel splice, missense, and no ...... ene causing tyrosinemia type 1
@ast
Novel splice, missense, and no ...... ene causing tyrosinemia type 1
@en
Novel splice, missense, and no ...... ene causing tyrosinemia type 1
@nl
P2093
P2860
P1476
Novel splice, missense, and no ...... ene causing tyrosinemia type 1
@en
P2093
P2860
P304
P407
P577
1994-10-01T00:00:00Z