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399 results
  1. Multiple Epiphyseal Dysplasia, Autosomal Dominant - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1123
    ... 2005 , Blumbach et al 2008 , Zaucke & Grässel 2009 ]. Collagen IX Genes Gene structure. The coding sequence of COL9A1 is ... Hwang HW, Chen YT, Tsai SF. Type II collagen gene variants and inherited osteonecrosis of the femoral head. ...
  2. COL2A1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/col2a1
    ... Identification and characterization of the human type II collagen gene (COL2A1). Proc Natl Acad Sci U S A. 1985 ... Hwang HW, Chen YT, Tsai SF. Type II collagen gene variants and inherited osteonecrosis of the femoral head. ...
  3. COL17A1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/col17a1
    ... ClinVar References Bauer JW, Lanschuetzer C. Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for ... Uitto J. Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized ...
  4. COL1A1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/col1a1
    ... the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b- ... growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. ...
  5. Pseudoachondroplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1487
    ... Hwang HW, Chen YT, Tsai SF. Type II collagen gene variants and inherited osteonecrosis of the femoral head. ... Ikegawa S. A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese ...
  6. Dermatofibrosarcoma protuberans: MedlinePlus Genetics 
    https://medlineplus.gov/.../dermatofibrosarcoma-protuberans
    ... the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b- ... growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. ...
  7. PDGFB gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/pdgfb
    ... the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b- ... growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. ...
  8. COL7A1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/col7a1
    ... dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1). Hum Mutat. 1997;10(5):338-47. ... J, Pfendner E. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the ... found on chromosome 3 . Related Health Topics ...
  9. COL11A1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/col11a1
    ... results from mutations in the COL11A1 type XI collagen gene. Am J Hum Genet. 2010 Nov 12;87( ...
  10. Intervertebral disc disease: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/intervertebral-disc-disease
    ... within the intervertebral discs. Specific variations in several collagen genes seem to affect the risk of developing intervertebral ... R, Zielinski G. The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease. Neurol ...
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