Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
about
Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine.Novel pharmacological chaperones that correct phenylketonuria in mice.Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.The structural origin of metabolic quantitative diversity.Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.
P2860
Q33723765-A9D4FAD2-22EC-4C78-A799-A5EF26ECA1CFQ34127906-62E90110-5721-4C80-AAC8-6C3FD48B59F6Q36209473-A4F71CFA-74C3-4749-B7FA-4C4892020B2FQ37177287-5CA67B09-41C3-47C7-8714-A0CD5D12AE1FQ42276374-DD9E3A35-BEE1-4E0D-A8F2-7E533F30A990Q47682247-7D46068A-82C9-437C-8221-BFBBE4CF576BQ54164592-13E714BA-A97A-4004-9392-5E5F701B4F57
P2860
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
Molecular characterization of ...... droxylase deficiency in Japan.
@en
Molecular characterization of ...... droxylase deficiency in Japan.
@nl
type
label
Molecular characterization of ...... droxylase deficiency in Japan.
@en
Molecular characterization of ...... droxylase deficiency in Japan.
@nl
prefLabel
Molecular characterization of ...... droxylase deficiency in Japan.
@en
Molecular characterization of ...... droxylase deficiency in Japan.
@nl
P2093
P2860
P356
P1476
Molecular characterization of ...... droxylase deficiency in Japan.
@en
P2093
Kazuyoshi Aso
Satoshi Kudo
Tomoko Sakaguchi
Yasuaki Nishi
Yoshiyuki Okano
P2860
P2888
P304
P356
10.1038/JHG.2011.10
P577
2011-02-10T00:00:00Z
P5875
P6179
1012173625