Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window? - Wikidata - awgldk - TriplyDB

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?

http://www.wikidata.org/entity/Q36088396

about

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?

http://www.wikidata.org/entity/Q36088396

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

@zh-cn

name

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?

@ast

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?

@en

type

label

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?

@ast

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?

@en

prefLabel

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?

@ast

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?

@en

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Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?

@en

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E Lacey

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H Booler

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M Hopkinson

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P2860

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

A stoichiometric complex of neurexins and dystroglycan in brain

Fukutin, a novel protein product responsible for Fukuyama-type congenital muscular dystrophy

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e0159853

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scholarly article

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10.1371/JOURNAL.PONE.0159853

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7

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11

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Dominic J Wells

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2016-07-28T00:00:00Z

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27467128

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4965172

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