Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy-Reference-Cited by-同舟云学术

Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy

Published:2019-07 Issue:1 Volume:105 Page:48-64
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Fichtman Boris,Harel Tamar,Biran Nitzan,Zagairy Fadia,Applegate Carolyn D.,Salzberg Yuval,Gilboa Tal,Salah Somaya,Shaag Avraham,Simanovsky Natalia,Ayoubieh Houriya,Sobreira Nara,Punzi Giuseppe,Pierri Ciro Leonardo,Hamosh Ada,Elpeleg Orly,Harel Amnon^ORCID,Edvardson Simon

Funder

Israel Science Foundation

Baylor-Hopkins Center for Mendelian Genomics

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference52 articles.

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3. 3D ultrastructure of the nuclear pore complex;Bilokapic;Curr. Opin. Cell Biol.,2012

4. The structure of the nuclear pore complex;Hoelz;Annu. Rev. Biochem.,2011

5. Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis;Basel-Vanagaite;Ann. Neurol.,2006

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