Llwytho...

Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability

Whole exome sequencing using a parent-child trio design to identify de novo mutations provides an efficient method to identify novel genes for rare diseases with low reproductive fitness that are difficult to study by more classical genetic methods of linkage analysis. We describe a 15 y old female...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Rohena, Luis, Neidich, Julie, Truitt Cho, Megan, Gonzalez, Kelly DF, Tang, Sha, Devinsky, Orrin, Chung, Wendy K
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Landes Bioscience 2013
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3932847/
https://ncbi.nlm.nih.gov/pubmed/25003006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/rdis.26314
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