Structural and clinical implications of amino acid substitutions in α-L-iduronidase: insight into the basis of mucopolysaccharidosis type I.
about
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
P2860
Structural and clinical implications of amino acid substitutions in α-L-iduronidase: insight into the basis of mucopolysaccharidosis type I.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh-hant
name
Structural and clinical implic ...... mucopolysaccharidosis type I.
@en
Structural and clinical implic ...... mucopolysaccharidosis type I.
@nl
type
label
Structural and clinical implic ...... mucopolysaccharidosis type I.
@en
Structural and clinical implic ...... mucopolysaccharidosis type I.
@nl
prefLabel
Structural and clinical implic ...... mucopolysaccharidosis type I.
@en
Structural and clinical implic ...... mucopolysaccharidosis type I.
@nl
P2093
P1476
Structural and clinical implic ...... mucopolysaccharidosis type I.
@en
P2093
Hitoshi Sakuraba
Kazuki Ohno
Seiji Saito
P304
P356
10.1016/J.YMGME.2013.10.005
P50
P577
2013-10-12T00:00:00Z