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ehlers-danlos syndrome, type vi
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ECM-receptor interaction
Homo sapiens (human)
2 genes
Definition
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COL1A1
Regulation of type I collagen genes expression
Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene
COL1A2
Regional chromosome mapping of human collagen genes alpha 2(I) and alpha 1(I) (COLIA2 and COLIA1)
ADAMTS2
Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase
Cancer Gene Census
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COL1A1
Somatic tumors
DFSP, aneurysmal bone cyst
Tumor types germline
Cancer Syndrom
Translocation partner
PDGFB, USP6
Name
collagen, type I, alpha 1
Chromosome banding
17q21.31-q22
Cancer molecular gen.
Dom
Mutation type
T
Other syndrome disease
Osteogenesis imperfecta
Clinical Trials
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