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NF1 mutations and clinical spectrum in patients with spinal neurofibromas

被引：39
作者：
Kluwe, L
Tatagiba, M
Fünsterer, C
Mautner, VF
机构：
[1] Univ Hamburg, Hosp Eppendorf, Dept Maxillofacial Surg, Lab Tumour Biol & Dev Disorders, D-20246 Hamburg, Germany
[2] Med Coll Hannover, Dept Neurosurg, Hannover, Germany
[3] Hamburg Othmarschen MRI Inst, Hamburg, Germany
[4] Klinikum Nord Ochsenzoll, Dept Neurol, Hamburg, Germany
来源：
JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 05期
关键词：
D O I：
10.1136/jmg.40.5.368
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：368 / 371
页数：4
相关论文
共 22 条
  • [1] A clinical variant of neurofibromatosis type 1:: Familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene
    Ars, E
    Kruyer, H
    Gaona, A
    Casquero, P
    Rosell, J
    Volpini, V
    Serra, E
    Lázaro, C
    Estivill, X
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (04) : 834 - 841
  • [2] Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
    Ars, E
    Serra, E
    García, J
    Kruyer, H
    Gaona, A
    Lázaro, C
    Estivill, X
    [J]. HUMAN MOLECULAR GENETICS, 2000, 9 (02) : 237 - 247
  • [3] A MAJOR SEGMENT OF THE NEUROFIBROMATOSIS TYPE-1 GENE - CDNA SEQUENCE, GENOMIC STRUCTURE, AND POINT MUTATIONS
    CAWTHON, RM
    WEISS, R
    XU, GF
    VISKOCHIL, D
    CULVER, M
    STEVENS, J
    ROBERTSON, M
    DUNN, D
    GESTELAND, R
    OCONNELL, P
    WHITE, R
    [J]. CELL, 1990, 62 (01) : 193 - 201
  • [4] BENIGN NEUROFIBROMAS IN TYPE-1 NEUROFIBROMATOSIS (NF1) SHOW SOMATIC DELETIONS OF THE NF1 GENE
    COLMAN, SD
    WILLIAMS, CA
    WALLACE, MR
    [J]. NATURE GENETICS, 1995, 11 (01) : 90 - 92
  • [5] Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the CAP-related domain
    Fahsold, R
    Hoffmeyer, S
    Mischung, C
    Gille, C
    Ehlers, C
    Kücükceylan, N
    Abdel-Nour, M
    Gewies, A
    Peters, H
    Kaufmann, D
    Buske, A
    Tinschert, S
    Nürnberg, P
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (03) : 790 - 818
  • [6] The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
    Gutmann, DH
    Aylsworth, A
    Carey, JC
    Korf, B
    Marks, J
    Pyeritz, RE
    Rubenstein, A
    Viskochil, D
    [J]. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1997, 278 (01): : 51 - 57
  • [7] Huson S. M., 1994, NEUROFIBROMATOSES PA
  • [8] VONRECKLINGHAUSEN NEUROFIBROMATOSIS - A CLINICAL AND POPULATION STUDY IN SOUTHEAST WALES
    HUSON, SM
    HARPER, PS
    COMPSTON, DAS
    [J]. BRAIN, 1988, 111 : 1355 - 1381
  • [9] RECENT DEVELOPMENTS IN THE DIAGNOSIS AND MANAGEMENT OF NEUROFIBROMATOSIS
    HUSON, SM
    [J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1989, 64 (05) : 745 - 749
  • [10] Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene
    Kaufmann, D
    Müller, R
    Bartelt, B
    Wolf, M
    Kunzi-Rapp, K
    Hanemann, CO
    Fahsold, R
    Hein, C
    Vogel, W
    Assum, G
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) : 1395 - 1400
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