Analysis of splice site mutations of the proteolipid protein (PLP) gene in Pelizaeus-Merzbacher disease

被引:0
|
作者
Hobson, GM
Sistermans, EA
de Coo, IFM
Stabley, D
Kolodny, EH
Funanage, VL
Garbern, JY
Marks, HG
机构
[1] A I DuPont Hosp Children, Wilmington, DE USA
[2] Univ Nijmegen Hosp, NL-6500 HB Nijmegen, Netherlands
[3] Univ Rotterdam Hosp, Rotterdam, Netherlands
[4] NYU, Sch Med, New York, NY USA
[5] Wayne State Univ, Detroit, MI USA
[6] Nemours Childrens Clin, Ft Myers, FL USA
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
2093
引用
收藏
页码:374 / 374
页数:1
相关论文
共 50 条
  • [41] REGIONAL ASSIGNMENT OF THE PROTEOLIPID PROTEIN (PLP) GENE TO XQ21.2-Q22 AND GENE ANALYSIS IN X-LINKED PELIZAEUS-MERZBACHER DISEASE
    WILLARD, HF
    MUNROE, DLG
    RIORDAN, JR
    MCCLOSKEY, D
    CYTOGENETICS AND CELL GENETICS, 1987, 46 (1-4): : 716 - 716
  • [42] Seventeen Novel PLP1 Mutations in Patients with Pelizaeus-Merzbacher Disease
    Huebner, Christian A.
    Orth, Ulrike
    Senning, Arne
    Steglich, Cordula
    Kohlschuetter, Alfried
    Korinthenberg, Rudolf
    Gal, Andreas
    HUMAN MUTATION, 2005, 25 (03) : 321 - 322
  • [43] A new proteolipid lipoprotein mutation in Pelizaeus-Merzbacher disease
    Verhagen, WIM
    Huygen, PLM
    Smeets, HJM
    Renier, WO
    deWijs, I
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 1997, 147 (02) : 215 - 216
  • [44] A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease
    Kawanishi, C
    Osaka, H
    Owa, K
    Inoue, K
    Miyakawa, T
    Onishi, H
    Yamada, Y
    Suzuki, K
    Kimura, S
    Kosaka, K
    HUMAN MUTATION, 1997, 9 (05) : 475 - 476
  • [45] Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations
    Inoue, K
    Osaka, H
    Imaizumi, K
    Nezu, A
    Takanashi, J
    Arii, J
    Murayama, K
    Ono, J
    Kikawa, Y
    Mito, T
    Shaffer, LG
    Lupski, JR
    ANNALS OF NEUROLOGY, 1999, 45 (05) : 624 - 632
  • [46] A novel de Novo splice donor site mutation causes 14 amino acid deletion of the proteolipid protein in Pelizaeus-Merzbacher disease
    Aoyagi, Y
    Kobayashi, H
    Tanaka, K
    Ozawa, T
    Nitta, H
    Tsuji, S
    NEUROLOGY, 1999, 52 (06) : A318 - A318
  • [47] A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease
    Fukumura, Shinobu
    Adachi, Noriaki
    Nagao, Masayoshi
    Tsutsumi, Hiroyuki
    BRAIN & DEVELOPMENT, 2011, 33 (08): : 697 - 699
  • [48] DETECTION OF PLP GENE-MUTATIONS IN PATIENTS WITH PELIZAEUS-MERZBACHER DISEASE BY SINGLE-STRAND CONFORMATIONAL-ANALYSIS
    BOYADJIEV, S
    SAHOTA, A
    PRATT, VM
    DLOUHY, SR
    HODES, ME
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 1131 - 1131
  • [49] Predicted expression of PLP1 splicing mutations in Pelizaeus-Merzbacher disease.
    Svojanovsky, SR
    Hobson, GM
    Sperle, K
    Sistermans, EA
    Garbern, JY
    Rogan, PK
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 651 - 651
  • [50] PELIZAEUS-MERZBACHER-DISEASE - A POINT MUTATION IN EXON-6 OF THE PROTEOLIPID PROTEIN (PLP) GENE
    PRATT, VM
    DLOUHY, SR
    HODES, ME
    CLINICAL GENETICS, 1995, 47 (02) : 99 - 100