Is CANDLE the best nomenclature? - Wikidata - awgldk - TriplyDB

Is CANDLE the best nomenclature?

Is CANDLE the best nomenclature?

http://www.wikidata.org/entity/Q48607856

about

[Clinical aspects and genetics of proteasome-associated autoinflammatory syndromes (PRAAS)].

P2860

Q52738719-A56B7F94-29EB-4624-8A51-E6395F88186A

P2860

Is CANDLE the best nomenclature?

http://www.wikidata.org/entity/Q48607856

description

2014 nî lūn-bûn

@nan

2014年の論文

@ja

2014年学术文章

@wuu

2014年学术文章

@zh

2014年学术文章

@zh-cn

2014年学术文章

@zh-hans

2014年学术文章

@zh-my

2014年学术文章

@zh-sg

2014年學術文章

@yue

2014年學術文章

@zh-hant

name

Is CANDLE the best nomenclature?

@en

Is CANDLE the best nomenclature?

@nl

type

label

Is CANDLE the best nomenclature?

@en

Is CANDLE the best nomenclature?

@nl

prefLabel

Is CANDLE the best nomenclature?

@en

Is CANDLE the best nomenclature?

@nl

P1433

Q48607856-CE261983-0B05-4608-9902-F66143BD3245

P1476

Q48607856-992EA600-8BAE-4068-B126-D1C4006387D2

P2093

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P2860

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P304

Q48607856-EFB23CB0-392D-40CF-85B1-4FF05FABE2CE

P31

Q48607856-1CAEA143-E9E8-4272-9FF0-A3C05DF705D0

P356

Q48607856-EB34B3DE-FF0F-4B55-925F-7460D5969520

P407

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P433

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P478

Q48607856-3A6EE613-4AD3-41AE-A692-BC00E7C9AAE0

P50

Q48607856-91B59881-F542-485D-94AD-459C6DE8578F

P577

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P698

Q48607856-5DF9E44C-B4BC-43F8-906C-559BF008E285

P356

P1433

British Journal of Dermatology

P1476

Is CANDLE the best nomenclature?

@en

P2093

F Furukawa

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

K Kunimoto

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

N Ishii

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

Y Inamo

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

P2860

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome.

An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.

PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations.

A new infant case of Nakajo-Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations.

P02-016 - A novel PSMB8 mutation causing candle syndrome.

P304

659-660

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

P31

scholarly article

P356

10.1111/BJD.12962

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

P407

P433

3

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

P478

171

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

P50

P577

2014-08-05T00:00:00Z

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

P698

24628124

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