A Muckle-Wells Syndrome Kindred Confirmed by Cias1 Dna Sequencing

CIAS1 DNA analysis performed by the authors revealed that each patient was heterozygous for an identical point mutation in exon 3 leading to a predicted R260W amino acid mutation in cryopyrin, the CIAS1 gene product.

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of allergy and clinical immunology 2006-02, Vol.117 (2), p.S238-S238
Hauptverfasser:	Gupta, M.R., Del Real, G. Alvarez, Hsieh, F.H., Knauer, K.A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Arthritis Deoxyribonucleic acid DNA Mutation
Online-Zugang:	Volltext
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Beschreibung
Zusammenfassung:	CIAS1 DNA analysis performed by the authors revealed that each patient was heterozygous for an identical point mutation in exon 3 leading to a predicted R260W amino acid mutation in cryopyrin, the CIAS1 gene product.
ISSN:	0091-6749 1097-6825
DOI:	10.1016/j.jaci.2005.12.943