Rare FMR1 gene mutations causing fragile X syndrome: A review.

about

Reading Deficits in Intellectual Disability Are still an Open Question: A Narrative Review

P2860

Q58796832-A7FCE68B-0C00-4287-9586-E124EB49C1BF

P2860

Rare FMR1 gene mutations causing fragile X syndrome: A review.

Item

http://www.wikidata.org/entity/Q53497867

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

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-hant

name

Rare FMR1 gene mutations causing fragile X syndrome: A review.

@en

Rare FMR1 gene mutations causing fragile X syndrome: A review.

@nl

type

Item

label

Rare FMR1 gene mutations causing fragile X syndrome: A review.

@en

Rare FMR1 gene mutations causing fragile X syndrome: A review.

@nl

prefLabel

Rare FMR1 gene mutations causing fragile X syndrome: A review.

@en

Rare FMR1 gene mutations causing fragile X syndrome: A review.

@nl

P1476

Rare FMR1 gene mutations causing fragile X syndrome: A review

@en

P2093

Adam F Sitzmann

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

Randi J Hagerman

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

Robert T Hagelstrom

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

P2860

Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome

Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function

Advances in the treatment of fragile X syndrome

Fragile x syndrome

The pathophysiology of fragile X (and what it teaches us about synapses)

Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures

A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Fragile X mental retardation protein controls synaptic vesicle exocytosis by modulating N-type calcium channel density

FMRP regulates neurotransmitter release and synaptic information transmission by modulating action potential duration via BK channels

P304

11-18

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

P31

scholarly article

P356

10.1002/AJMG.A.38504

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

P407

English

P433

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

P478

176

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

P50

Merlin Butler

Flora Tassone

P577

2017-11-27T00:00:00Z

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

P698

29178241

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

P932

6697153

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

Rare FMR1 gene mutations causing fragile X syndrome: A review.

about

P2860

P2860

Rare FMR1 gene mutations causing fragile X syndrome: A review.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932