about
Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.Collagen type II is downregulated in the degenerative nucleus pulposus and contributes to the degeneration and apoptosis of human nucleus pulposus cellsA novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family.
P2860
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Molecular genetics of the COL2A1-related disorders.
@en
type
label
Molecular genetics of the COL2A1-related disorders.
@en
prefLabel
Molecular genetics of the COL2A1-related disorders.
@en
P1476
Molecular genetics of the COL2A1-related disorders
@en
P2093
Xiangjun Huang
P356
10.1016/J.MRREV.2016.02.003
P577
2016-03-02T00:00:00Z