UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

OBJECTIVE: To identify the gene defect in patients with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) who are negative for TUBB4A mutations. METHODS: We performed homozygosity mapping and whole exome sequencing (WES) to detect the disease-causing variant. We used a Taqman...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Neurology
Main Authors: Hamilton, Eline M.C., Bertini, Enrico, Kalaydjieva, Luba, Morar, Bharti, Dojčáková, Dana, Liu, Judy, Vanderver, Adeline, Curiel, Julian, Persoon, Claudia M., Diodato, Daria, Pinelli, Lorenzo, van der Meij, Nathalie L., Plecko, Barbara, Blaser, Susan, Wolf, Nicole I., Waisfisz, Quinten, Abbink, Truus E.M., van der Knaap, Marjo S.
Format: Artigo
Sprog:Inglês
Udgivet: Lippincott Williams & Wilkins 2017
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5664304/
https://ncbi.nlm.nih.gov/pubmed/28931644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000004578
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker