Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

about

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

P2860

Q57987566-1C1B3814-5522-4980-B007-D6AF2DB0FC7E

P2860

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

Item

http://www.wikidata.org/entity/Q47804519

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh

2017年學術文章

@zh-hant

name

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

@en

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

@nl

type

Item

label

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

@en

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

@nl

prefLabel

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

@en

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

@nl

P1476

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

@en

P2093

Birgit Uhlenberg

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

Claudia Weiß

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

Corinne Boehm

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

John Christodoulou

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

Kristina Prelog

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

Lisa Riley

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

Michael Nafisinia

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

Nara Sobreira

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

Robert Ouvrier

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

Wendy Gold

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

P2860

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

MD Simulations of tRNA and Aminoacyl-tRNA Synthetases: Dynamics, Folding, Binding, and Allostery

The crystal structure of arginyl-tRNA synthetase from Homo sapiens

Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder

Mutations in RARS cause hypomyelination

A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease

Partition of tRNA synthetases into two classes based on mutually exclusive sets of sequence motifs

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

Functional expansion of human tRNA synthetases achieved by structural inventions

P2888

ejhg.2017.119

P304

1134-1141

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

P31

scholarly article

P356

10.1038/EJHG.2017.119

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

P433

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

P478

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

P577

2017-07-26T00:00:00Z

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

P698

28905880

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

P932

5602020

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

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

about

P2860

P2860

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P698

P932