title: Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China.
authors.forename: M
authors.initials: M
authors.lastname: He
authors.forename: B-S
authors.initials: BS
authors.lastname: Tang
authors.forename: N
authors.initials: N
authors.lastname: Li
authors.forename: X
authors.initials: X
authors.lastname: Mao
authors.forename: J
authors.initials: J
authors.lastname: Li
authors.forename: J-G
authors.initials: JG
authors.lastname: Zhang
authors.forename: J-J
authors.initials: JJ
authors.lastname: Xiao
authors.forename: J
authors.initials: J
authors.lastname: Wang
authors.forename: H
authors.initials: H
authors.lastname: Jiang
authors.forename: L
authors.initials: L
authors.lastname: Shen
authors.forename: J-F
authors.initials: JF
authors.lastname: Guo
authors.forename: K
authors.initials: K
authors.lastname: Xia
authors.forename: J-L
authors.initials: JL
authors.lastname: Wang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D059472:Exome; D005260:Female; D006720:Homozygote; D006801:Humans; D051658:KCNQ2 Potassium Channel / Q000235:genetics; D051907:Lysosomal Membrane Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D020191:Myoclonic Epilepsies, Progressive / Q000209:etiology / Q000235:genetics*; D051116:Receptors, Scavenger / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods; D055815:Young Adult
chemical_list: D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D051907:Lysosomal Membrane Proteins; D051116:Receptors, Scavenger; C074299:SCARB2 protein, human