A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’

End-stage renal disease (ESRD) presenting in a familial autosomal dominant pattern points to an underlying monogenic cause. Nail-patella syndrome (NPS) is an autosomal dominant disorder that may lead to ESRD caused by mutations in the transcription factor LMX1B. Renal-limited forms of this disease,...

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Detalles Bibliográficos
Autores principales: Edwards, Noel, Rice, Sarah J., Raman, Shreya, Hynes, Ann Marie, Srivastava, Shalabh, Moore, Iain, Al-Hamed, Mohamed, Xu, Yaobo, Santibanez-Koref, Mauro, Thwaites, David T., Gale, Daniel P., Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310431/
https://www.ncbi.nlm.nih.gov/pubmed/25713721
http://dx.doi.org/10.1093/ckj/sfu129

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