Work

Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype

Year: 2018

Type: article

Study design: Case Report

Source: Journal of Medical Genetics

DOI: 10.1136/jmedgenet-2018-105299

Authors: Alina Kurolap, Orly Eshach-Adiv, Claudia Gonzaga-Jauregui, Katya Dolnikov, Adi Mory, Tamar Paperna, Tova Hershkovitz, John D Overton, Marielle Kaplan, Fabian Glaser, Yaniv Zohar, Alan R Shuldiner, Gidon Berger, Hagit N Baris

Institutions: Technion – Israel Institute of Technology, Rambam Health Care Campus, Regeneron (United States)

Language: English

Topic: Barrier Structure and Function Studies

Subfield: Neurology

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2807054009

FWCI: 0.898

Cites: 37

Cited by: 26

Related to: 10