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osteogenesis imperfecta, type i
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COL1A1
Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen
COL1A2
Regional chromosome mapping of human collagen genes alpha 2(I) and alpha 1(I) (COLIA2 and COLIA1)
PPIB
Selective cerebral perfusion during operation for aneurysms of the aortic arch: a reassessment
Functional aspects of extracellular cyclophilins
Roles of cyclophilins in cancers and other organ systems
Comparing human pancreatic cell secretomes by in vitro aptamer selection identifies cyclophilin B as a candidate pancreatic cancer biomarker
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
Definition
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Pathways
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Focal adhesion
Homo sapiens (human)
2 genes
Clinical Trials
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External
BBD Longitudinal Study of Osteogenesis Imperfecta