Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome

J Dermatol. 2018 Mar;45(3):370-371. doi: 10.1111/1346-8138.13964. Epub 2017 Jul 17.

Authors

Dandan Mao¹, Zhanglei Mu¹, Yue Yang², Leqing Cao², Qianxi Xu¹, Juan Du¹, Jianzhong Zhang¹

Affiliations

¹ Departments of Dermatology, Peking University People's Hospital, Beijing, China.
² Rheumatology, Peking University People's Hospital, Beijing, China.

PMID: 28714197
DOI: 10.1111/1346-8138.13964

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Asian People / genetics
Biopsy
Codon, Nonsense
Collagen Type V / genetics*
DNA Mutational Analysis
Ehlers-Danlos Syndrome / genetics*
Ehlers-Danlos Syndrome / pathology
Female
Humans
Male
Pedigree
Phenotype
Skin / pathology

Substances

COL5A1 protein, human
Codon, Nonsense
Collagen Type V