title: Ataxia-telangiectasia with novel splicing mutations in the ATM gene.
authors.affiliation: Department of Neurology, Gyeongsang National University School of Medicine, Jinju, Korea.
authors.forename: Heejeong
authors.initials: H
authors.lastname: Jeong
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Hee Jae
authors.initials: HJ
authors.lastname: Huh
authors.affiliation: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Jinyoung
authors.initials: J
authors.lastname: Youn
authors.affiliation: Department of Neurology, Soonchunhyang University Hospital, Soonchunhyang University School of Medicine, Seoul, Korea.
authors.forename: Ji Sun
authors.initials: JS
authors.lastname: Kim
authors.affiliation: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Jin Whan
authors.initials: JW
authors.lastname: Cho
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
mesh_terms: D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000235:genetics*; D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics*; D001483:Base Sequence; D007446:Chromosome Inversion; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D009154:Mutation; D012326:RNA Splicing; D014178:Translocation, Genetic
chemical_list: D064007:Ataxia Telangiectasia Mutated Proteins