A novel mutation of laminin β2 (LAMB2) in two siblings with renal failure

This report describes a novel mutation of LAMB2, the gene associated with Pierson syndrome (microcoria-congenital nephrosis syndrome), in two female siblings. The c.970T>C p.(Cys324Arg) mutation in the LAMB2 gene affects one of the eight highly conserved cysteine residues within the first EGF-lik...

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Detalles Bibliográficos
Autores principales: Falix, Farah A., Bennebroek, Carlien A.M., van der Zwaag, Bert, Lapid-Gortzak, Ruth, Florquin, Sandrine, Oosterveld, Michiel J.S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352804/
https://www.ncbi.nlm.nih.gov/pubmed/28188379
http://dx.doi.org/10.1007/s00431-017-2871-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352804/
https://www.ncbi.nlm.nih.gov/pubmed/28188379
http://dx.doi.org/10.1007/s00431-017-2871-6

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