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Results 1 - 10 of 11 for col2a1
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  1. COL2A1 gene 
    The COL2A1 gene provides instructions for making one component of type II collagen, called the pro-alpha1(II) chain. Type II collagen adds structure and ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  2. Legg-Calvé-Perthes disease 
    ... a small percentage of cases, mutations in the COL2A1 gene cause the bone abnormalities characteristic of Legg-Calvé-Perthes disease. The COL2A1 gene provides instructions for making a protein that ...
    https://medlineplus.gov/.../condition/legg-calve-perthes-disease - Genetics
  3. Spondyloepiphyseal dysplasia congenita 
    ... of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a ... gel that fills the eyeball (the vitreous). The COL2A1 gene is essential for the normal development of ...
    https://medlineplus.gov/.../spondyloepiphyseal-dysplasia-congenita - Genetics
  4. Spondyloperipheral dysplasia 
    ... of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a ... the body's supportive framework.Mutations in the COL2A1 gene interfere with the assembly of type II ...
    https://medlineplus.gov/.../condition/spondyloperipheral-dysplasia - Genetics
  5. Spondyloepimetaphyseal dysplasia, Strudwick type 
    ... of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a ... body's supportive framework.Most mutations in the COL2A1 gene that cause spondyloepimetaphyseal dysplasia, Strudwick type interfere ...
    https://medlineplus.gov/...loepimetaphyseal-dysplasia-strudwick-type - Genetics
  6. Platyspondylic lethal skeletal dysplasia, Torrance type 
    ... of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a ... the body's supportive framework.All of the COL2A1 mutations that have been found to cause platyspondylic ...
    https://medlineplus.gov/...c-lethal-skeletal-dysplasia-torrance-type - Genetics
  7. Achondrogenesis 
    ... 000 newborns. Mutations in the TRIP11, SLC26A2, and COL2A1 genes cause achondrogenesis type 1A, type 1B, and ... skeletal disorders that result from mutations in the COL2A1 gene. This gene provides instructions for making a ...
    https://medlineplus.gov/genetics/condition/achondrogenesis - Genetics
  8. Spondyloepiphyseal dysplasia with metatarsal shortening 
    ... particular variant (also called a mutation) in the COL2A1 gene. The COL2A1 gene provides instructions for making a protein that ... block (amino acid) known as arginine in the COL2A1 protein with another amino acid known as cysteine. ...
    https://medlineplus.gov/genetics/condition/czech-dysplasia - Genetics
  9. Hypochondrogenesis 
    ... spectrum of disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a ... the body's supportive framework. Mutations in the COL2A1 gene interfere with the assembly of type II ...
    https://medlineplus.gov/genetics/condition/hypochondrogenesis - Genetics
  10. Stickler syndrome 
    ... I and are caused by variants in the COL2A1 gene. Another 10 to 20 percent of cases ... those genes have not been identified. COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3 Stickler syndrome types I, II, ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
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