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机译:小说在一个家庭与常染色体LGI1突变主要部分癫痫与听觉功能。
Harvard Univ, Sch Med, Boston, MA 02114 USA;
Department of Neurology, Yale University School of Medicine, New Haven, CT, USA.;
Temporal Lobe; LGI1 gene; MutationAutosomal dominant partial epilepsy with auditory featuresEpilepsyLGI1 protein, humanAuditory Perceptual Disorders;
机译:Two mutations in the nicotinic acetylcholine receptor subunit A4 (CHRNA4) in a family with autosomal dominant sleep-related hypermotor epilepsy
机译:Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features.
机译:Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation
机译:a splice-site mutation leads to haploinsufficiency of EXT2 mRNa for a dominant trait in a large family with multiple osteochondromas.