Congenital protein hypoglycosylation diseases. - Wikidata - thesis-toulmin - TriplyDB

Congenital protein hypoglycosylation diseases.

Congenital protein hypoglycosylation diseases.

http://www.wikidata.org/entity/Q36925245

about

Congenital protein hypoglycosylation diseases.

http://www.wikidata.org/entity/Q36925245

description

2012 nî lūn-bûn

@nan

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

2012年论文

@zh

2012年论文

@zh-cn

name

Congenital protein hypoglycosylation diseases.

@en

type

label

Congenital protein hypoglycosylation diseases.

@en

prefLabel

Congenital protein hypoglycosylation diseases.

@en

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P1433

The Application of Clinical Genetics

P1476

Congenital protein hypoglycosylation diseases.

@en

P2093

Susan E Sparks

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

P2860

Walker-Warburg syndrome

The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family

UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation

Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

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

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase

A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis

Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE

Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity

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43-54

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scholarly article

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10.2147/TACG.S18673

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P478

5

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2012-07-05T00:00:00Z

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23776380

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3681192

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