Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child

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Authors: Reza Maroofian, Isabel Schuele, Maryam Najafi, Zeineb Bakey, Abolfazl Rad, Dinu Antony, Haleh Habibi, Miriam Schmidts

Journal title: Kidney International Reports

Journal number: 3/6

Journal publisher: Elsevier

Published year: 2018

Published pages: 1454-1463

DOI identifier: 10.1016/j.ekir.2018.07.015

ISSN: 2468-0249