Novel missense mutation in the COL3A1 gene caused vascular Ehlers-Danlos syndrome in a Chinese family
J Dermatol
.
2015 Jan;42(1):95-6.
doi: 10.1111/1346-8138.12696.
Epub 2014 Nov 25.
Authors
Fang He
1
,
Xianwei Wang
,
Xinzhang Cai
,
Hao Peng
,
Lusi Zhang
,
Tengfei Zhu
,
Kun Xia
,
Qian Pan
,
Zhengmao Hu
Affiliation
1
State Key Laboratory of Medical Genetics, Central South University, Changsha, China; Xiangtan Central Hospital, Xiangtan, China.
PMID:
25420629
DOI:
10.1111/1346-8138.12696
No abstract available
Publication types
Letter
MeSH terms
Adult
China
Collagen Type III / genetics*
Ehlers-Danlos Syndrome / genetics*
Female
Humans
Male
Middle Aged
Mutation, Missense
Substances
COL3A1 protein, human
Collagen Type III