ARHGDIA: a novel gene implicated in nephrotic syndrome

BACKGROUND: Congenital nephrotic syndrome arises from a defect in the glomerular filtration barrier that permits the unrestricted passage of protein across the barrier, resulting in proteinuria, hypoalbuminaemia, and severe oedema. While most cases are due to mutations in one of five genes, in up to...

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Detalles Bibliográficos
Autores principales: Gupta, Indra Rani, Baldwin, Cindy, Auguste, David, Ha, Kevin C H, El Andalousi, Jasmine, Fahiminiya, Somayyeh, Bitzan, Martin, Bernard, Chantal, Akbari, Mohammad Reza, Narod, Steven A, Rosenblatt, David S, Majewski, Jacek, Takano, Tomoko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2013
Materias:
Developmental Defects
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625828/
https://www.ncbi.nlm.nih.gov/pubmed/23434736
http://dx.doi.org/10.1136/jmedgenet-2012-101442

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