Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.
about
Targeted Next Generation Sequencing in Patients with Inborn Errors of MetabolismIdentification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technologyCorrelation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.Genetic heterogeneity of RPMI-8402, a T-acute lymphoblastic leukemia cell lineMassive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
P2860
Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.
description
2014 nî lūn-bûn
@nan
2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Mutation spectrum of six genes ...... gh next-generation sequencing.
@ast
Mutation spectrum of six genes ...... gh next-generation sequencing.
@en
type
label
Mutation spectrum of six genes ...... gh next-generation sequencing.
@ast
Mutation spectrum of six genes ...... gh next-generation sequencing.
@en
prefLabel
Mutation spectrum of six genes ...... gh next-generation sequencing.
@ast
Mutation spectrum of six genes ...... gh next-generation sequencing.
@en
P2093
P2860
P1433
P1476
Mutation spectrum of six genes ...... gh next-generation sequencing.
@en
P2093
Guanghui Yang
Jiabao Peng
Jian Huang
Shujian Cui
Zhigang Yang
P2860
P304
P356
10.1371/JOURNAL.PONE.0094100
P407
P577
2014-04-04T00:00:00Z