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Exome Sequencing Reveals Cubilin Mutation as a Single-Gene Cause of Proteinuria
In two siblings of consanguineous parents with intermittent nephrotic-range proteinuria, we identified a homozygous deleterious frameshift mutation in the gene CUBN, which encodes cubulin, using exome capture and massively parallel re-sequencing. The mutation segregated with affected members of this...
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Main Authors: | , , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
American Society of Nephrology
2011
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3187182/ https://ncbi.nlm.nih.gov/pubmed/21903995 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2011040337 |
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