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Exclusion of the gene for human cartilage intermediate layer protein in currently mapped calcium pyrophosphate dihydrate deposition syndromes.
Marinescu, R C; Nyce, K; Serrano de la Peña, L; Overhauser, J; Williams, C J.
Afiliação
  • Marinescu RC; Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
Arthritis Rheum ; 42(10): 2139-44, 1999 Oct.
Article em En | MEDLINE | ID: mdl-10524685
OBJECTIVE: To map the gene for human cartilage intermediate layer protein (CILP) in order to assess its involvement in some familial forms of calcium pyrophosphate dihydrate (CPPD) deposition disease. METHODS: A radiation hybrid panel was analyzed for chromosomal assignment of the CILP gene within a 1-cM limit of resolution. The location of the gene for CILP was confirmed to reside at the observed radiation hybrid locus by fluorescence in situ hybridization. RESULTS: The human CILP gene resides at chromosome 15q21. CONCLUSION: This map location definitively excludes mutations in the CILP gene as the cause of certain familial forms of CPPD deposition disease that have been genetically mapped to chromosomes 8q and 5p.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pirofosfatases / Cromossomos Humanos Par 5 / Cromossomos Humanos Par 8 / Glicoproteínas / Condrocalcinose / Proteínas da Matriz Extracelular Limite: Humans Idioma: En Revista: Arthritis Rheum Ano de publicação: 1999 Tipo de documento: Article País de afiliação: Estados Unidos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pirofosfatases / Cromossomos Humanos Par 5 / Cromossomos Humanos Par 8 / Glicoproteínas / Condrocalcinose / Proteínas da Matriz Extracelular Limite: Humans Idioma: En Revista: Arthritis Rheum Ano de publicação: 1999 Tipo de documento: Article País de afiliação: Estados Unidos
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