Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome

COACH syndrome is an autosomal recessive developmental disorder, a subtype of Joubert syndrome and related disorders, characterized by cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. Although mutations in TMEM67 (transmembrane protein 67)/MKS3 (Meckel-Gruber syndr...

Descripción completa

Detalles Bibliográficos
Autores principales: Lee, So-Hyun, Nam, Tai-Seung, Li, Wenting, Kim, Jung Ha, Yoon, Woong, Choi, Yoo-Duk, Kim, Kun-Hee, Cai, Hua, Kim, Min Jung, Kim, Changsoo, Choy, Hyon E., Kim, Nacksung, Chay, Kee Oh, Kim, Myeong-Kyu, Choi, Seok-Yong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5579020/
https://www.ncbi.nlm.nih.gov/pubmed/28860541
http://dx.doi.org/10.1038/s41598-017-10652-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5579020/
https://www.ncbi.nlm.nih.gov/pubmed/28860541
http://dx.doi.org/10.1038/s41598-017-10652-z

Ejemplares similares