Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.
Familial calcium pyrophosphate dihydrate deposition disease (CPPDD) is a disease of articular cartilage that is radiographically characterized by chondrocalcinosis due to the deposition of calcium-containing crystals in affected joints. We have documented the disease in an Argentinean kindred of nor...
| Asıl Yazarlar: | , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Materyal Türü: | Journal article |
| Dil: | English |
| Baskı/Yayın Bilgisi: |
1999
|
| _version_ | 1826258273324498944 |
|---|---|
| author | Andrew, L Brancolini, V de la Pena, L Devoto, M Caeiro, F Marchegiani, R Reginato, A Gaucher, A Netter, P Gillet, P Loeuille, D Prockop, D Carr, A Wordsworth, B Lathrop, M Butcher, S Considine, E Everts, K Nicod, A Walsh, S Williams, C |
| author_facet | Andrew, L Brancolini, V de la Pena, L Devoto, M Caeiro, F Marchegiani, R Reginato, A Gaucher, A Netter, P Gillet, P Loeuille, D Prockop, D Carr, A Wordsworth, B Lathrop, M Butcher, S Considine, E Everts, K Nicod, A Walsh, S Williams, C |
| author_sort | Andrew, L |
| collection | OXFORD |
| description | Familial calcium pyrophosphate dihydrate deposition disease (CPPDD) is a disease of articular cartilage that is radiographically characterized by chondrocalcinosis due to the deposition of calcium-containing crystals in affected joints. We have documented the disease in an Argentinean kindred of northern Italian ancestry and in a French kindred from the Alsace region. Both families presented with a common phenotype including early age at onset and deposition of crystals of calcium pyrophosphate dihydrate in a similar pattern of affected joints. Affected family members were karyotypically normal. Linkage to the short arm of chromosome 5 was observed, consistent with a previous report of linkage of the CPPDD phenotype in a large British kindred to the 5p15 region. However, recombinants in the Argentinean kindred have enabled us to designate a region<1 cM in length between the markers D5S416 and D5S2114 as the CPPDD locus. |
| first_indexed | 2024-03-06T18:31:22Z |
| format | Journal article |
| id | oxford-uuid:09c31d9a-eb5d-4c78-a848-c0a497a5da16 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T18:31:22Z |
| publishDate | 1999 |
| record_format | dspace |
| spelling | oxford-uuid:09c31d9a-eb5d-4c78-a848-c0a497a5da162022-03-26T09:20:07ZRefinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:09c31d9a-eb5d-4c78-a848-c0a497a5da16EnglishSymplectic Elements at Oxford1999Andrew, LBrancolini, Vde la Pena, LDevoto, MCaeiro, FMarchegiani, RReginato, AGaucher, ANetter, PGillet, PLoeuille, DProckop, DCarr, AWordsworth, BLathrop, MButcher, SConsidine, EEverts, KNicod, AWalsh, SWilliams, CFamilial calcium pyrophosphate dihydrate deposition disease (CPPDD) is a disease of articular cartilage that is radiographically characterized by chondrocalcinosis due to the deposition of calcium-containing crystals in affected joints. We have documented the disease in an Argentinean kindred of northern Italian ancestry and in a French kindred from the Alsace region. Both families presented with a common phenotype including early age at onset and deposition of crystals of calcium pyrophosphate dihydrate in a similar pattern of affected joints. Affected family members were karyotypically normal. Linkage to the short arm of chromosome 5 was observed, consistent with a previous report of linkage of the CPPDD phenotype in a large British kindred to the 5p15 region. However, recombinants in the Argentinean kindred have enabled us to designate a region<1 cM in length between the markers D5S416 and D5S2114 as the CPPDD locus. |
| spellingShingle | Andrew, L Brancolini, V de la Pena, L Devoto, M Caeiro, F Marchegiani, R Reginato, A Gaucher, A Netter, P Gillet, P Loeuille, D Prockop, D Carr, A Wordsworth, B Lathrop, M Butcher, S Considine, E Everts, K Nicod, A Walsh, S Williams, C Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. |
| title | Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. |
| title_full | Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. |
| title_fullStr | Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. |
| title_full_unstemmed | Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. |
| title_short | Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. |
| title_sort | refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease |
| work_keys_str_mv | AT andrewl refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT brancoliniv refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT delapenal refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT devotom refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT caeirof refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT marchegianir refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT reginatoa refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT gauchera refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT netterp refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT gilletp refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT loeuilled refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT prockopd refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT carra refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT wordsworthb refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT lathropm refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT butchers refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT considinee refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT evertsk refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT nicoda refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT walshs refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease AT williamsc refinementofthechromosome5plocusforfamilialcalciumpyrophosphatedihydratedepositiondisease |