De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A-Reference-Cited by-同舟云学术

De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A

Published:2020-08-19 Issue:7 Volume:183 Page:412-422
ISSN:1552-4841
Container-title:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Banne Ehud¹^ORCID,Falik‐Zaccai Tzipora²³,Brielle Esther⁴⁵,Kalfon Limor²,Ladany Hagay²,Klinger Danielle⁴,Schneidman‐Duhovny Dina⁴⁶,Linial Michal⁴

Affiliation:

1. The Genetics Institute, Kaplan Medical Center – Rehovot Hebrew University and Hadassah Medical School Jerusalem Israel

2. Institute of Human Genetics Galilee Medical Center Naharia Israel

3. Azrieli Faculty of Medicine in the Galilee Bar Ilan University Safed Israel

4. Department of Biological Chemistry, Institute of Life Sciences The Hebrew University of Jerusalem Jerusalem Israel

5. The Alexander Grass Center for Bioengineering The Hebrew University of Jerusalem Jerusalem Israel

6. The Rachel and Selim Benin School of Computer Science and Engineering The Hebrew University of Jerusalem Jerusalem Israel

Funder

Israel Science Foundation

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics (clinical)

Link

Reference55 articles.

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