Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

about

Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

P2860

Q48499041-4EC76A36-B7D7-49DE-9872-8E66F3A9D1EF

P2860

Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Item

http://www.wikidata.org/entity/Q42276374

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

@zh-cn

name

Spectrum of PAH gene variants ...... ketonuria from northern China.

@en

Spectrum of PAH gene variants ...... ketonuria from northern China.

@nl

type

Item

label

Spectrum of PAH gene variants ...... ketonuria from northern China.

@en

Spectrum of PAH gene variants ...... ketonuria from northern China.

@nl

prefLabel

Spectrum of PAH gene variants ...... ketonuria from northern China.

@en

Spectrum of PAH gene variants ...... ketonuria from northern China.

@nl

P1476

Spectrum of PAH gene variants ...... lketonuria from northern China

@en

P2093

Dehua Zhao

http://www.w3.org/2001/XMLSchema#string

Lixia Cui

http://www.w3.org/2001/XMLSchema#string

Ning Liu

http://www.w3.org/2001/XMLSchema#string

Qingge Li

http://www.w3.org/2001/XMLSchema#string

Qiuying Huang

http://www.w3.org/2001/XMLSchema#string

Xiaole Li

http://www.w3.org/2001/XMLSchema#string

Yin Feng

http://www.w3.org/2001/XMLSchema#string

Ying Bai

http://www.w3.org/2001/XMLSchema#string

P2860

The molecular basis of phenylketonuria in Koreans.

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.

Phenylketonuria mutations in Europe.

Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.

Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China.

Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.

Molecular genetics and diagnosis of phenylketonuria: state of the art.

Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

P2888

s12881-017-0467-7

P304

108

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1186/S12881-017-0467-7

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Xiangdong Kong

P577

2017-10-05T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

28982351

http://www.w3.org/2001/XMLSchema#string

P921

phenylketonuria

P932

5629770

http://www.w3.org/2001/XMLSchema#string

Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

about

P2860

P2860

Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P921

P932