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A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene

Author
COTO-SEGURA, P1 ; MALLO-GARCIA, S1 ; COSTA-ROMERO, M2 ; AROSTEGUI, J. I3 ; YAGUE, J3 ; RAMOS-POLO, E2 ; SANTOS-JUANES, J1
[1] Department of Dermatology, Asturias Central University Hospital, Asturias, Spain
[2] Department of Pediatrics, Asturias Central University Hospital, Asturias, Spain
[3] Department of Immunology, Hospital Clinic i Provincial de Barcelona, Barcelona, Spain
Source

British journal of dermatology (1951). 2007, Vol 157, Num 6, pp 1257-1259, 3 p ; ref : 16 ref

CODEN
BJDEAZ
ISSN
0007-0963
Scientific domain
Dermatology
Publisher
Blackwell, Edinburgh / Blackwell, London / Blackwell, Oxford
Publication country
United Kingdom
Document type
Article
Language
English
Author keyword
Blau syndrome NOD2/CARD15 early-onset sarcoidosis
Keyword (fr)
Dermatologie Granulomatose Gène Mutation faux sens Précoce Récidive Sarcoïdose Sporadique Syndrome de Blau Maladie de système
Keyword (en)
Dermatology Granulomatosis Gene Missense mutation Early Relapse Sarcoidosis Sporadic Blau syndrome Systemic disease
Keyword (es)
Dermatología Granulomatosis Gen Mutación falso sentido Precoz Recaida Sarcoidosis Esporádico Blau síndrome Enfermedad sistémica
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B07 Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis

Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology

Discipline
Dermatology Sarcoidosis. Granulomatosis of undetermined origin. Connective tissue diseases. Vasculitides
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
19885956

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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