Correction: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

被引:0
|
作者
机构
关键词
D O I
10.1038/84886
中图分类号
学科分类号
摘要
S E Hong et al. Nature Genet. 26, 93–96 (2000). In a recent Letter, we mapped a gene that causes human lissencephaly with cerebellar hypoplasia (LCH), and identified two independent splicing mutations in the human gene RELN. Each mutation causes skipping of an exon with a consequent translational frameshift and deficiency of the reelin protein.
引用
收藏
页码:225 / 225
相关论文
共 50 条
  • [1] Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
    Hong, SE
    Shugart, YY
    Huang, DT
    Shahwan, SA
    Grant, PE
    Hourihane, JOB
    Martin, NDT
    Walsh, CA
    NATURE GENETICS, 2000, 26 (01) : 93 - 96
  • [2] Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
    Susan E. Hong
    Yin Yao Shugart
    David T. Huang
    Saad Al Shahwan
    P. Ellen Grant
    Jonathan O'B. Hourihane
    Neil D.T. Martin
    Christopher A. Walsh
    Nature Genetics, 2000, 26 : 93 - 96
  • [4] Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation
    Igreja, Liliana
    Menezes, Catarina
    Pinto, Pedro S.
    Freixo, Joao Parente
    Chorao, Rui
    PEDIATRIC NEUROLOGY, 2023, 149 : 137 - 140
  • [5] AUTOSOMAL RECESSIVE CEREBELLAR HYPOPLASIA
    HARRIS, CM
    KRISS, A
    RUSSELLEGGITT, I
    PEDIATRIC NEUROLOGY, 1993, 9 (03) : 247 - 247
  • [6] AUTOSOMAL RECESSIVE CEREBELLAR HYPOPLASIA
    MATHEWS, KD
    AFIFI, AK
    HANSON, JW
    JOURNAL OF CHILD NEUROLOGY, 1989, 4 (03) : 189 - 194
  • [7] AUTOSOMAL RECESSIVE CEREBELLAR HYPOPLASIA
    WICHMAN, A
    KELLY, T
    NEUROLOGY, 1982, 32 (04) : A142 - A143
  • [8] Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5
    Daniella Magen
    Ayala Ofir
    Liron Berger
    Dorit Goldsher
    Ayelet Eran
    Nasser Katib
    Yousif Nijem
    Euvgeni Vlodavsky
    Shay Tzur
    Doron M. Behar
    Yakov Fellig
    Hanna Mandel
    Human Genetics, 2015, 134 : 315 - 315
  • [9] A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene
    Balza, Claire
    Garofalo, Giulia
    Cos, Teresa
    Desir, Julie
    Kang, Xin
    Keymolen, Kathelijn
    Soblet, Julie
    Van Berkel, Kim
    Vilain, Catheline
    Ben Abbou, Wafa
    Cassart, Marie
    CLINICAL CASE REPORTS, 2021, 9 (12):
  • [10] AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR HYPOPLASIA
    WICHMAN, A
    FRANK, LM
    KELLY, TE
    CLINICAL GENETICS, 1985, 27 (04) : 373 - 382