A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS

Several genes, mainly involved in podocyte cytoskeleton regulation, have been implicated in familial forms of primary FSGS. We identified a homozygous missense mutation (p.P209L) in the TTC21B gene in seven families with FSGS. Mutations in this ciliary gene were previously reported to cause nephrono...

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Pubblicato in:J Am Soc Nephrol
Autori principali: Cong, Evelyne Huynh, Bizet, Albane A., Boyer, Olivia, Woerner, Stéphanie, Gribouval, Olivier, Filhol, Emilie, Arrondel, Christelle, Thomas, Sophie, Silbermann, Flora, Canaud, Guillaume, Hachicha, Jamil, Ben Dhia, Nasr, Peraldi, Marie-Noëlle, Harzallah, Kais, Iftene, Daouia, Daniel, Laurent, Willems, Marjolaine, Noel, Laure-Hélène, Bole-Feysot, Christine, Nitschké, Patrick, Gubler, Marie-Claire, Mollet, Géraldine, Saunier, Sophie, Antignac, Corinne
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Nephrology 2014
Soggetti:
Brief Communications
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4214529/
https://ncbi.nlm.nih.gov/pubmed/24876116
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2013101126
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