CLN8 disease caused by large genomic deletions. - Wikidata - wikimedia - TriplyDB

CLN8 disease caused by large genomic deletions.

CLN8 disease caused by large genomic deletions.

http://www.wikidata.org/entity/Q42330086

about

CLN8 disease caused by large genomic deletions.

http://www.wikidata.org/entity/Q42330086

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

CLN8 disease caused by large genomic deletions.

@en

CLN8 disease caused by large genomic deletions.

@nl

type

label

CLN8 disease caused by large genomic deletions.

@en

CLN8 disease caused by large genomic deletions.

@nl

prefLabel

CLN8 disease caused by large genomic deletions.

@en

CLN8 disease caused by large genomic deletions.

@nl

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Molecular genetics & genomic medicine

P1476

CLN8 disease caused by large genomic deletions.

@en

P2093

Ana Lia Taratuto

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

Christin Eltze

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

Clare Beesley

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

Rita J Guerreiro

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

Ruth E Williams

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

P2860

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

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85-91

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scholarly article

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10.1002/MGG3.263

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1

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5

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2016-11-23T00:00:00Z

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28116333

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5241206

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