Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

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Ophthalmic findings in an infant with phosphomannomutase deficiency.A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.

P2860

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P2860

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

Item

http://www.wikidata.org/entity/Q39463521

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2013 nî lūn-bûn

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2013年の論文

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2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

2013年论文

@zh

2013年论文

@zh-cn

name

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

@en

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

@nl

type

Item

label

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

@en

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

@nl

prefLabel

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

@en

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

@nl

P1476

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

@en

P2093

Herbert Jägle

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Isabelle Russell-Eggitt

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Ruth J Lyons

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Stephanie Grünewald

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P2860

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Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

Pannexin1 channels contain a glycosylation site that targets the hexamer to the plasma membrane

Exploring the retinal connectome

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2

Congenital disorders of glycosylation: a booming chapter of pediatrics

Bone spicule pigment formation in retinitis pigmentosa: insights from a mouse model.

Expression of connexin genes in the human retina.

P2888

s10545-013-9594-2

P304

1039-1047

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P31

scholarly article

P356

10.1007/S10545-013-9594-2

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P433

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

P478

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

P50

Dorothy Thompson

Alki Liasis

P577

2013-02-22T00:00:00Z

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P698

23430200

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P921

birth defect

glycosylation

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

about

P2860

P2860

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P921