[Autoinflammatory syndromes in childhood]. - Wikidata - awgldk - TriplyDB

[Autoinflammatory syndromes in childhood].

[Autoinflammatory syndromes in childhood].

http://www.wikidata.org/entity/Q40144768

about

Evidence of digenic inheritance in autoinflammation-associated genes.

P2860

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P2860

[Autoinflammatory syndromes in childhood].

http://www.wikidata.org/entity/Q40144768

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

@zh-cn

name

[Autoinflammatory syndromes in childhood].

@en

type

label

[Autoinflammatory syndromes in childhood].

@en

prefLabel

[Autoinflammatory syndromes in childhood].

@en

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S00393-015-1572-7

P1433

Zeitschrift fuer Rheumatologie

P1476

[Autoinflammatory syndromes in childhood].

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P2093

G Horneff

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P2860

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

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

Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder

Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome

Activated STING in a vascular and pulmonary syndrome

Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition.

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

Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.

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s00393-015-1572-7

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511-24; quiz 525

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scholarly article

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10.1007/S00393-015-1572-7

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6

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74

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2015-08-05T00:00:00Z

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26238708

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