Hereditary multiple exostoses (HME) in a Dutch pedigree not linked to the loci EXT1, EXT2, EXT3: shows suggestive linkage for the EXT4 gene on chromosome 17q.

被引:0
|
作者
Bakker, E
Vilerius, M
van der Linden, AJ
Cabral, A
Von Hul, W
Von Haeringen, A
机构
[1] Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands
[2] Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands
[3] Univ Maastricht, Dept Orthoped, Maastricht, Netherlands
[4] Univ Antwerp, Dept Med Genet, B-2020 Antwerp, Belgium
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
2327
引用
收藏
页码:A398 / A398
页数:1
相关论文
共 27 条
  • [1] HEREDITARY MULTIPLE EXOSTOSES - MUTATIONS IN EXT1 GENE AND CHARACTERIZATION OF EXT1, EXT2 AND EXT3 POLYMORPHIC MARKERS IN CHONDROSARCOMA
    WANG, Y
    HOGUE, D
    WAGNER, M
    WELLS, D
    HANSEN, MF
    HECHT, JT
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1341 - 1341
  • [2] Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses
    Wuyts, W
    Van Hul, W
    De Boulle, K
    Hendrickx, J
    Bakker, E
    Vanhoenacker, F
    Mollica, F
    Lüdecke, HJ
    Sayli, BS
    Pazzaglia, UE
    Mortier, G
    Hamel, B
    Conrad, EU
    Matsushita, M
    Raskind, WH
    Willems, PJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (02) : 346 - 354
  • [3] Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus
    Kobayashi, S
    Morimoto, K
    Shimizu, T
    Takahaski, M
    Kurosawa, H
    Shirasawa, T
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2000, 268 (03) : 860 - 867
  • [4] Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses
    Philippe, C
    Porter, DE
    Emerton, ME
    Wells, DE
    Simpson, AHRW
    Monaco, AP
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (03) : 520 - 528
  • [5] Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses
    Al-Zayed, Zayed
    Al-Rijjal, Roua A.
    Al-Ghofaili, Lamya
    BinEssa, Huda A.
    Pant, Rajeev
    Alrabiah, Anwar
    Al-Hussainan, Thamer
    Zou, Minjing
    Meyer, Brian F.
    Shi, Yufei
    ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)
  • [6] NEW MUTATIONS IN EXT1 AND EXT2 IN CHINESE FAMILIES WITH HEREDITARY MULTIPLE EXOSTOSES
    Quan, Yi
    Huang, Yanru
    Wei, Xianda
    Zhu, Huimin
    Liang, Desheng
    Wu, Lingqian
    FRESENIUS ENVIRONMENTAL BULLETIN, 2018, 27 (09): : 6222 - 6228
  • [7] Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses
    Zayed Al-Zayed
    Roua A. Al-Rijjal
    Lamya Al-Ghofaili
    Huda A. BinEssa
    Rajeev Pant
    Anwar Alrabiah
    Thamer Al-Hussainan
    Minjing Zou
    Brian F. Meyer
    Yufei Shi
    Orphanet Journal of Rare Diseases, 16
  • [8] Screening for EXT1 and EXT2 mutations in 40 hereditary multiple exostoses families.
    Francannet, C
    Cohen-Tanugi, A
    Munnich, A
    Legeai-Mallet, L
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A47 - A47
  • [9] Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses
    Kyu Joo Park
    K.-H. Shin
    J.-L. Ku
    Tae-Joon Cho
    Sang Hoon Lee
    In Ho Choi
    Anthony P. Monaco
    Daniel E. Porter
    J.-G. Park
    C. Philippe
    Journal of Human Genetics, 1999, 44 : 230 - 234
  • [10] Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses
    Jamsheer, Aleksander
    Socha, Magdalena
    Sowinska-Seidler, Anna
    Telega, Kinga
    Trzeciak, Tomasz
    Latos-Bielenska, Anna
    JOURNAL OF APPLIED GENETICS, 2014, 55 (02) : 183 - 188