X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.

about

Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.

P2860

Q48800373-227E682E-979A-4A9E-A0FD-C0B9CD18721C

P2860

X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.

Item

http://www.wikidata.org/entity/Q54220036

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh

2016年學術文章

@zh-hant

name

X-linked Charcot-Marie-Tooth d ...... enase kinase isoenzyme 3 gene.

@en

X-linked Charcot-Marie-Tooth disease type 6

@nl

type

Item

label

X-linked Charcot-Marie-Tooth d ...... enase kinase isoenzyme 3 gene.

@en

X-linked Charcot-Marie-Tooth disease type 6

@nl

prefLabel

X-linked Charcot-Marie-Tooth d ...... enase kinase isoenzyme 3 gene.

@en

X-linked Charcot-Marie-Tooth disease type 6

@nl

P1476

X-linked Charcot-Marie-Tooth d ...... enase kinase isoenzyme 3 gene.

@en

P2093

Aditi Kidambi

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

Anna Siddell

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

Byung-Ok Choi

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

Eun J Kim

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

Ki W Chung

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

Marina L Kennerson

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

Sun H Hwang

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

Sung M Kim

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

Young B Hong

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

P2860

Site specificity of four pyruvate dehydrogenase kinase isoenzymes toward the three phosphorylation sites of human pyruvate dehydrogenase

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

Connexin mutations in X-linked Charcot-Marie-Tooth disease

Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)

Amount and distribution of 5-methylcytosine in human DNA from different types of tissues of cells

The CpG dinucleotide and human genetic disease

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.

The pyruvate dehydrogenase complexes: structure-based function and regulation.

Molecular basis of base substitution hotspots in Escherichia coli.

Regulation of mammalian pyruvate dehydrogenase complex by phosphorylation: complexity of multiple phosphorylation sites and kinases.

P304

45-51

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

P31

scholarly article

P356

10.1111/JNS.12160

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

P433

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

P478

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

P577

2016-03-01T00:00:00Z

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

P5875

291689675

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

P698

26801680

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

X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.

about

P2860

P2860

X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698