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100 results
  1. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... of another type of collagen molecule, type II collagen. Type II collagen is an important component of the vitreous ... of another type of collagen molecule, type II collagen. Type II collagen is an important component of mature cartilage. ...
  2. COL2A1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/col2a1
    ... This Gene ANFH AOM COL11A3 collagen of cartilage collagen, type II collagen, type II, alpha 1 collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) SEDC ...
  3. Spondylometaphyseal Dysplasia, Corner Fracture Type - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK555103
    ... All in OMIM ) View in own window 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1 135600 FIBRONECTIN 1; FN1 184255 ... alter the homotrimer assembly and stability of the collagen type II. Those residues play an essential role in the ...
  4. COL11A2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/col11a2
    ... of another type of collagen molecule, type II collagen. Type II collagen is an important component of mature cartilage. The arrangement and size of type II collagen fibrils is essential for the normal structure of ...
  5. COL11A1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/col11a1
    ... of another type of collagen molecule, type II collagen. Type II collagen is an important component of the vitreous and cartilage. The arrangement and size of type II collagen fibrils is essential for the normal structure of ...
  6. Spondyloperipheral dysplasia: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/spondyloperipheral-dysplasia
    ... Furga A, Spranger J, Winterpacht A. A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. Am ...
  7. FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK541503
    ... type X collagen, but not with type I collagen, type II collagen, or type V collagen [ Ishikawa & Bächinger 2014 ]. Remarkably, pathogenic variants ...
  8. Multiple Epiphyseal Dysplasia, Autosomal Dominant - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1123
    ... These proteins interact with each other and with type II collagen both in vitro [ Rosenberg et al 1998 , Holden ... NC4) domains. The COL domains closely associate with type II collagen fibrils and are thought to act as a ...
  9. Spondyloepiphyseal dysplasia with metatarsal shortening: MedlinePlus Genetics 
    https://medlineplus.gov/...seal-dysplasia-with-metatarsal-shortening
    ... provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in ... is present in the nose and external ears. Type II collagen is essential for the normal development of bones ...
  10. Spondyloepimetaphyseal dysplasia, Strudwick type: MedlinePlus Genetics 
    https://medlineplus.gov/...loepimetaphyseal-dysplasia-strudwick-type
    ... provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in ... is present in the nose and external ears. Type II collagen is essential for the normal development of bones ...
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