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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Bibliographic Details
Published in:	Journal of allergy and clinical immunology Vol. 117; no. 2; p. S238
Main Authors:	Gupta, M.R., Del Real, G. Alvarez, Hsieh, F.H., Knauer, K.A.
Format:	Journal Article
Language:	English
Published:	St. Louis Mosby, Inc 01-02-2006 Elsevier Limited
Subjects:	Arthritis Deoxyribonucleic acid DNA Mutation
Online Access:	Get full text
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Description
Summary:	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