A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

about

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

Item

http://www.wikidata.org/entity/Q41218842

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

A novel TUBB4A mutation G96R i ...... ophy onset beyond adolescence.

@en

type

Item

label

A novel TUBB4A mutation G96R i ...... ophy onset beyond adolescence.

@en

prefLabel

A novel TUBB4A mutation G96R i ...... ophy onset beyond adolescence.

@en

P1476

A novel TUBB4A mutation G96R i ...... rophy onset beyond adolescence

@en

P2093

Keiko Shimojima

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

Yongping Lu

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

Yumiko Ondo

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

P2860

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

Refined structure of alpha beta-tubulin at 3.5 A resolution

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

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.

TUBB4A de novo mutations cause isolated hypomyelination.

Exome sequencing in undiagnosed inherited and sporadic ataxias

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

Whole exome sequencing in patients with white matter abnormalities.

P2888

hgv.2017.35

P304

17035

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

P31

scholarly article

P356

10.1038/HGV.2017.35

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

P478

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

P50

Toshiyuki Yamamoto

Hitoshi Osaka

P577

2017-08-03T00:00:00Z

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

P698

28791129

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

P921

adolescence

P932

5540734

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