Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome

Background and Objectives: Nephrotic syndrome (NS) is a kidney disease where the patient has a classic triad of signs and symptoms including hypercholesterolemia, hypoalbuminemia, proteinuria (>3.5 g/24 h), and peripheral edema. In case of NS, the damaged nephrons (structural and functional unit...

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Detalles Bibliográficos
Autores principales: Simaab, Anam, Krishin, Jai, Alaradi, Sultan Rashid, Haider, Nighat, Shah, Muqadar, Ullah, Asmat, Abdullah, Abdullah, Ahmad, Wasim, Hansen, Torben, Basit, Sulman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9781877/
https://www.ncbi.nlm.nih.gov/pubmed/36556986
http://dx.doi.org/10.3390/medicina58121784

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9781877/
https://www.ncbi.nlm.nih.gov/pubmed/36556986
http://dx.doi.org/10.3390/medicina58121784

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