Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A

There are two genetics complementary groups Cockayne syndrome type A and B (CS-A and CS-B OMIM 216400, 133540), which is a rare autosomal recessive segmental progeroid syndrome. Homozygous or compound heterozygous mutations in the excision repair cross-complementation group 8 gene (ERCC8) result in...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Sci Rep
Main Authors: Wang, Xiaozhu, Huang, Yu, Yan, Ming, Li, Jiuwei, Ding, Changhong, Jin, Hong, Fang, Fang, Yang, Yanling, Wu, Baiyan, Chen, Dafang
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2017
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5651726/
https://ncbi.nlm.nih.gov/pubmed/29057985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-14034-3
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker