The crystal structure of human Rogdi provides insight into the causes of Kohlschutter-Tönz Syndrome

Kohlschutter-Tönz syndrome (KTS) is a rare autosomal-recessive disorder of childhood onset characterized by global developmental delay, spasticity, epilepsy, and amelogenesis imperfecta. Rogdi, an essential protein, is highly conserved across metazoans, and mutations in Rogdi are linked to KTS. Howe...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Sci Rep
Main Authors: Lee, Hakbong, Jeong, Hanbin, Choe, Joonho, Jun, Youngsoo, Lim, Chunghun, Lee, Changwook
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2017
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5479863/
https://ncbi.nlm.nih.gov/pubmed/28638151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-04120-x
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker