Wednesday, June 3, 2009

Nosology of Osteogenesis Imperfecta

Type Iは、Haploinsufficiency.
Type IIは、Dominant negative.

だから、Type IとType IIは、変異を伴った遺伝子産物の作用機序が異なるのだそうな。

nosology【名】 1. 疾病分類学

Type I
Collagen is of normal quality but is produced in insufficient quantitie

Type II
Collagen is not of a sufficient quality or quantity





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