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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Ovunc, Bugsu, Otto, Edgar A., Vega-Warner, Virginia, Saisawat, Pawaree, Ashraf, Shazia, Ramaswami, Gokul, Fathy, Hanan M., Schoeb, Dominik, Chernin, Gil, Lyons, Robert H., Yilmaz, Engin, Hildebrandt, Friedhelm
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: American Society of Nephrology 2011
Θέματα:
Brief Communications
Διαθέσιμο Online: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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