CYPB , peptidylprolyl isomerase B (cyclophilin B) , HEL-S-39 , SCYLP , CYP-S1 , OI9
PPIB is identified as a candidate gene for OI-IX. Osteogenesis imperfecta (OI) is an inherited disorder of connective tissue typically caused by defects in either COL1A1 or COL1A2. A number of other genes causative of this disorder have been found, including PPIB, which forms one subunit of the prolyl 3-hydroxylase enzyme complex. Patients with OI caused by PPIB mutation should have appropriate early and regular management of their hearing.
TMPY-01380
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