CARD15 mutations in familial granulomatosis syndromes: A study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy
| Autor: | Lysette Mutkus, Gina Bonavita, Edward B. Blau, Ulrike A. Mau, Gabriel Núñez, Naohiro Inohara, Gerard Tromp, Charlene J. Williams, Helena Kuivaniemi, Xiaoju Wang |
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| Rok vydání: | 2002 |
| Předmět: |
Male
Immunology Nod2 Signaling Adaptor Protein Granulomatous Disease Chronic medicine.disease_cause Genetic determinism Rheumatology Genetic linkage medicine Humans Immunology and Allergy Missense mutation Genetic Predisposition to Disease Pharmacology (medical) Arteritis Allele Gene Blau syndrome Genetics Mutation business.industry Intracellular Signaling Peptides and Proteins Chromosome Mapping Syndrome medicine.disease Cranial Nerve Diseases Female Carrier Proteins business |
| Zdroj: | Arthritis & Rheumatism. 46:3041-3045 |
| ISSN: | 1529-0131 0004-3591 |
| DOI: | 10.1002/art.10618 |
| Popis: | Objective To analyze the CARD15 gene in families with heritable multi-organ granulomatoses, including the original Blau syndrome kindred as well as other families with related granulomatous conditions. Methods Linkage mapping was performed in 10 families. Observed recombination events were used to exclude regions centromeric or telomeric to 16q12.1, and the Blau gene critical region was refined to |
| Databáze: | OpenAIRE |
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