Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy

do Rosario, M. C., Bey, G. R., Nmezi, B., Liu, F., Oranburg, T., Cohen, A. S. A., Coffman, K. A., Brown, M. R., Kiselyov, K., Waisfisz, Q., Flohil, M. T., Siddiqui, S., Rosenfeld, J. A., Iglesias, A., Girisha, K. M., Wolf, N. I., Padiath, Q. S., & Shukla, A. (2022). Variants in the zinc transporterTMEM163cause a hypomyelinating leukodystrophy. Brain, 145(12), 4202–4209. https://doi.org/10.1093/brain/awac295
Authors:
Michelle C do Rosario
Guillermo Rodriguez Bey
Bruce Nmezi
Fang Liu
Talia Oranburg
Ana S A Cohen
Keith A Coffman
Maya R Brown
Kirill Kiselyov
Quinten Waisfisz
Myrthe T Flohil
Shahyan Siddiqui
Jill A Rosenfeld
Alejandro Iglesias
Katta Mohan Girisha
Nicole I Wolf
Quasar Saleem Padiath
Anju Shukla
Affiliated Authors:
Alejandro Iglesias
Columbia Affiliation:
Subjects:
Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)
Copper and Zinc in Health and Disease (OpenAlex Topic)
Regulation of RNA Processing and Function (OpenAlex Topic)
Pelizaeus-Merzbacher Disease (MeSH)
Author Keywords:
genomic testing
hypomyelinating leukodystrophies
oligodendrocytes
tmem163
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Publication Type:
Article
Unique ID:
10.1093/brain/awac295
PMID:
35953447
DOI:
10.1093/brain/awac295
Journal:
Brain
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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View OpenAlex Record

Record Created: