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Results 1 - 10 of 18 for col1a1
  1. COL1A1 gene 
    The COL1A1 gene provides instructions for making part of a large molecule called type I collagen. Collagens are a ... pro-α1(I) chain is produced from the COL1A1 gene. Collagens begin as rope-like procollagen molecules ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
  2. PDGFB gene 
    ... part of another gene on chromosome 17 called COL1A1. The translocation is found on one or more ... circular. The resulting combined (fusion) gene is called COL1A1-PDGFB.The COL1A1-PDGFB fusion gene provides instructions ...
    https://medlineplus.gov/genetics/gene/pdgfb - Genetics
  3. Dermatofibrosarcoma protuberans 
    ... as t(17;22), fuses part of the COL1A1 gene from chromosome 17 with part of the ... called a somatic mutation.In normal cells, the COL1A1 gene provides instructions for making part of a ...
    https://medlineplus.gov/.../dermatofibrosarcoma-protuberans - Genetics
  4. Caffey disease 
    ... itself in early childhood. A mutation in the COL1A1 gene causes Caffey disease. The COL1A1 gene provides instructions for making part of a ... form of collagen in the human body.The COL1A1 gene mutation that causes Caffey disease replaces the ...
    https://medlineplus.gov/genetics/condition/caffey-disease - Genetics
  5. Osteogenesis imperfecta 
    ... in one of several genes. Mutations in the COL1A1 and COL1A2 genes cause approximately 90 percent of ... type I is caused by mutations in the COL1A1 gene or, less commonly, the COL1A2 gene. These ...
    https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta - Genetics
  6. Ehlers-Danlos syndrome 
    ... COL5A1 or COL5A2 gene, or rarely in the COL1A1 gene, can cause the classical type. Variants in ... caused by COL1A2 gene variants; variants in the COL1A1 gene have also been found in people with ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -
  7. Chromosome 17 
    ... skin cancer. This translocation fuses part of the COL1A1 gene from chromosome 17 with part of the ... ring chromosomes. This translocation is somatic.The fused COL1A1-PDGFB gene provides instructions for making a fused ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  8. Chromosome 22 
    ... gene from chromosome 22 with part of the COL1A1 gene from chromosome 17. The translocation is found ... a somatic mutation, is not inherited.The fused COL1A1-PDGFB gene provides instructions for making a combined ( ...
    https://medlineplus.gov/genetics/chromosome/22 - Genetics
  9. Learning about Osteogenesis Imperfecta From the National Institutes of Health (National Human Genome Research Institute)  
    Osteogenesis Imperfecta/Genetics ... Osteogenesis Imperfecta ... National Human Genome Research Institute ... From the National Institutes of Health ... Osteogenesis imperfecta ...
    https://www.genome.gov/Genetic-Disorders/Osteogenesis-Imperfecta - External Health Links
  10. Types of OI (Osteogenesis Imperfecta Foundation)  
    Osteogenesis Imperfecta/Specifics ... Osteogenesis Imperfecta ... Osteogenesis Imperfecta Foundation
    https://oif.org/informationcenter/about-oi - External Health Links
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