3582520499

3582520499



Genetics: Mutations 10% of all Ol cases are caused by recessive mutations in genes that regulate the post-translational modification/processing of type I collagen and genes that help modulate osteoblast (large celi responsible for the synthesis and mineralization of bonę) differentiation and bonę mineralization

•    CRTAP gene: Encodes a cartilage associated protein -1 cartilage is an important flexible connective tissue that keeps joint motion fluid by coating the surfaces of the bones and cushioning them against impact

1

   LEPRE1 gene: Involved in post-translational modifications to collagen


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