A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes-Reference-Cited by-同舟云学术

A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes

Published:2022-03-04 Issue:6 Volume:30 Page:687-694
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Kang You-Ri^ORCID,Lee So-Hyun^ORCID,Lin Ni-Hsuan,Lee Seung-Jin,Yang Ai-Wen,Chandrasekaran Gopalakrishnan^ORCID,Kang Kyung Wook,Jin Mi Sun,Kim Myeong-Kyu,Perng Ming-Der^ORCID,Choi Seok-Yong^ORCID,Nam Tai-Seung^ORCID

Funder

Ministry of Science and Technology, Taiwan

National Research Foundation of Korea

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01073-2.pdf

Reference31 articles.

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2. Zang L, Wang J, Jiang Y, Gu Q, Gao Z, Yang Y, et al. Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations. J Hum Genet. 2013;58:183–8.

3. Messing A, Brenner M, Feany MB, Nedergaard M, Goldman JE. Alexander disease. J Neurosci. 2012;32:5017–23.

4. Brenner M, Lampel K, Nakatani Y, Mill J, Banner C, Mearow K, et al. Characterization of human cDNA and genomic clones for glial fibrillary acidic protein. Brain Res Mol Brain Res. 1990;7:277–86.

5. Chernyatina AA, Guzenko D, Strelkov SV. Intermediate filament structure: the bottom-up approach. Curr Opin Cell Biol. 2015;32:65–72.

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