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GENATLAS PHENOTYPE
last update : 28/08/2006
Symbol OI2A
Location 17q21.33
Name osteogenesis imperfecta, type II
Corresponding gene COL1A1
Main clinical features congenital, lethal
Genetic determination
Function/system disorder connective tissue
Type disease
Gene product
Name collagen type I, alpha 1 (COL1A1)
Remark(s)