Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report

Journal article

Open access

Peer reviewed

Ibrahim Sandokji, Jonathan Marquez, Weizhen Ji, Cynthia A. Zerillo, Monica Konstantino, Saquib A. Lakhani, Mustafa K. Khokha and Jillian K. Warejko

BMC nephrology, Vol.20(1), pp.271-271

17/07/2019

PMCID: PMC6637548

PMID: 31315584

Abstract

Case Report

Focal segmental glomerulosclerosis

Genetics

Inherited diseases

Steroid-resistant nephrotic syndrome

Whole exome sequencing

url

https://doi.org/10.1186/s12882-019-1458-zView

Published (Version of record) Open

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Title: Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report
Creators - without role: Ibrahim Sandokji - 333 Cedar St., PO Box 208064, New Haven, CT 06520-8064 USA
Jonathan Marquez - Pediatrics and Genetics
Weizhen Ji - Pediatrics and Genetics
Cynthia A. Zerillo - Pediatrics and Genetics
Monica Konstantino - Pediatrics and Genetics
Saquib A. Lakhani - Pediatrics and Genetics
Mustafa K. Khokha - Pediatrics and Genetics
Jillian K. Warejko - Yale University
Publication Details: BMC nephrology, Vol.20(1), pp.271-271
Publisher: BioMed Central
Grant note: R01HL124402 / ;
Identifiers: 9930356508331
Academic Unit: Taibah University
Language: English
Resource Type: Journal article