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Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2

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Bibliographic Details
Published in:	Clinical genetics 2014-12, Vol.86 (6), p.598-600
Main Authors:	He, M., Tang, B.-S., Li, N., Mao, X., Li, J., Zhang, J.-G., Xiao, J.-J., Wang, J., Jiang, H., Shen, L., Guo, J.-F., Xia, K., Wang, J.-L.
Format:	Article
Language:	English
Subjects:	Adult Asian People - genetics Exome Female Homozygote Humans KCNQ2 Potassium Channel - genetics Lysosomal Membrane Proteins - genetics Male Mutation Myoclonic Epilepsies, Progressive - etiology Myoclonic Epilepsies, Progressive - genetics Receptors, Scavenger - genetics Sequence Analysis, DNA - methods Young Adult
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