LMX1B Mutations Cause Hereditary FSGS without Extrarenal Involvement

LMX1B encodes a homeodomain-containing transcription factor that is essential during development. Mutations in LMX1B cause nail-patella syndrome, characterized by dysplasia of the patellae, nails, and elbows and FSGS with specific ultrastructural lesions of the glomerular basement membrane (GBM). By...

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書誌詳細
主要な著者: Boyer, Olivia, Woerner, Stéphanie, Yang, Fan, Oakeley, Edward J., Linghu, Bolan, Gribouval, Olivier, Tête, Marie-Josèphe, Duca, José S., Klickstein, Lloyd, Damask, Amy J., Szustakowski, Joseph D., Heibel, Françoise, Matignon, Marie, Baudouin, Véronique, Chantrel, François, Champigneulle, Jacqueline, Martin, Laurent, Nitschké, Patrick, Gubler, Marie-Claire, Johnson, Keith J., Chibout, Salah-Dine, Antignac, Corinne
フォーマット: Artigo
言語:Inglês
出版事項: American Society of Nephrology 2013
主題:
Brief Communications
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3736714/
https://ncbi.nlm.nih.gov/pubmed/23687361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2013020171
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