Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene.
about
Phenylketonuria: translating research into novel therapiesIdentification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report.The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.The structural origin of metabolic quantitative diversity.Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria.Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.
P2860
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P2860
Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene.
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
name
Structural and functional anal ...... henylalanine hydroxylase gene.
@ast
Structural and functional anal ...... henylalanine hydroxylase gene.
@en
type
label
Structural and functional anal ...... henylalanine hydroxylase gene.
@ast
Structural and functional anal ...... henylalanine hydroxylase gene.
@en
prefLabel
Structural and functional anal ...... henylalanine hydroxylase gene.
@ast
Structural and functional anal ...... henylalanine hydroxylase gene.
@en
P2093
P1433
P1476
Structural and functional anal ...... henylalanine hydroxylase gene.
@en
P2093
Dong-Hwan Lee
Hyun-Jeong Oh
Jihong Kim
Jongsun Jung
Kuchan Kimm
Kwang-Soo Lee
Sang-Wun Kim
Soo Kyung Koo
P304
P356
10.1016/J.CCA.2005.09.019
P577
2005-10-25T00:00:00Z