Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration

We sequenced the whole exome of 35 cases and 7 controls from 9 age-related macular degeneration (AMD) families in whom known common genetic risk alleles could not explain their high disease burden and/or their early-onset advanced disease. Two families harbored novel rare mutations in CFH (R53C and...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: Yu, Yi, Triebwasser, Michael P., Wong, Edwin K. S., Schramm, Elizabeth C., Thomas, Brett, Reynolds, Robyn, Mardis, Elaine R., Atkinson, John P., Daly, Mark, Raychaudhuri, Soumya, Kavanagh, David, Seddon, Johanna M.
פורמט: Artigo
שפה:Inglês
יצא לאור: Oxford University Press 2014
נושאים:
Association Studies Articles
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC4159152/
https://ncbi.nlm.nih.gov/pubmed/24847005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu226
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