MAGI2 Mutations Cause Congenital Nephrotic Syndrome

Steroid–resistant nephrotic syndrome (SRNS), a heterogeneous disorder of the renal glomerular filtration barrier, results in impairment of glomerular permselectivity. Inheritance of genetic SRNS may be autosomal dominant or recessive, with a subset of autosomal recessive SRNS presenting as congenita...

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Dades bibliogràfiques
Publicat a:J Am Soc Nephrol
Autors principals: Bierzynska, Agnieszka, Soderquest, Katrina, Dean, Philip, Colby, Elizabeth, Rollason, Ruth, Jones, Caroline, Inward, Carol D., McCarthy, Hugh J., Simpson, Michael A., Lord, Graham M., Williams, Maggie, Welsh, Gavin I., Koziell, Ania B., Saleem, Moin A.
Format: Artigo
Idioma:Inglês
Publicat: American Society of Nephrology 2017
Matèries:
Clinical Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5407720/
https://ncbi.nlm.nih.gov/pubmed/27932480
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2016040387
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