A NONSENSE MUTATION IN THE PMP22 GENE IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) NOT ASSOCIATED WITH THE 17P11.2 DELETION

被引:0
|
作者
TARONI, F
BOTTI, S
SGHIRLANZONI, A
BOTTEON, G
DIDONATO, S
PAREYSON, D
机构
[1] IST NAZL NEUROL CARLO BESTA,DEPT BIOCHEM & GENET,MILAN,ITALY
[2] IST NAZL NEUROL CARLO BESTA,DEPT NEUROL,MILAN,ITALY
[3] IST NAZL NEUROL CARLO BESTA,DEPT CHILD NEUROL,MILAN,ITALY
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
引用
收藏
页码:1327 / 1327
页数:1
相关论文
共 50 条
  • [1] Hereditary neuropathy with liability to pressure palsies: A nonsense mutation in the PMP22 gene in a family not carrying the common 17p11.2-12 deletion
    Taroni, F
    Botti, S
    Sghirlanzoni, A
    Scaioli, V
    DiDonato, S
    Pareyson, D
    [J]. NEUROLOGY, 1996, 46 (02) : 21002 - 21002
  • [2] Hereditary neuropathy with liability to pressure palsies (HNPP) with deletion in PMP22 gene: characteristics in a Brazilian series
    Lorenzoni, P.
    Scola, R.
    Kay, C.
    Cavalet, C.
    Arndt, R.
    Werneck, L. C.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2015, 22 : 679 - 679
  • [3] Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies
    Pareyson, D
    Taroni, F
    [J]. CURRENT OPINION IN NEUROLOGY, 1996, 9 (05) : 348 - 354
  • [4] Clinical, genetic and electrophysiologic correlation in hereditary neuropathy with liability to pressure palsies with involvement of PMP22 gene at chromosome 17p11.2
    CruzMartinez, A
    Bort, S
    Arpa, J
    Duarte, J
    Palau, F
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 1997, 4 (03) : 274 - 286
  • [5] PMP22 frameshift mutation and hereditary neuropathy with liability to pressure palsies
    Pareyson, D
    Botti, S
    Sghirlanzoni, A
    Taroni, F
    [J]. NEUROLOGY, 1997, 49 (05) : 1478 - 1478
  • [6] Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene
    van de Wetering, RAC
    Gabreëls-Festen, AAWM
    Timmerman, V
    Padberg, GW
    Gabreëls, FJM
    Mariman, ECM
    [J]. NEUROMUSCULAR DISORDERS, 2002, 12 (7-8) : 651 - 655
  • [7] Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population
    Jong Eun Park
    Seung-Jae Noh
    Mijin Oh
    Dae-Yeon Cho
    So Young Kim
    Chang-Seok Ki
    [J]. Orphanet Journal of Rare Diseases, 13
  • [8] Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population
    Park, Jong Eun
    Noh, Seung-Jae
    Oh, Mijin
    Cho, Dae-Yeon
    Kim, So Young
    Ki, Chang-Seok
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2018, 13
  • [9] DETECTION OF DELETION WITHIN 17P11.2 IN 7 FRENCH FAMILIES WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP)
    LEGUERN, E
    STURTZ, F
    GUGENHEIM, M
    GOUIDER, R
    BONNEBOUCHE, C
    RAVISE, N
    GONNAUD, PM
    TARDIEU, S
    BOUCHE, P
    CHAZOT, G
    AGID, Y
    VANDENBERGHE, A
    BRICE, A
    [J]. CYTOGENETICS AND CELL GENETICS, 1994, 65 (04): : 261 - 264
  • [10] MOLECULAR DIAGNOSIS OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) BY DETECTION OF 17P11.2 DELETION IN ITALIAN PATIENTS
    MANDICH, P
    JAMES, R
    NASSANI, S
    DEFFERRARI, R
    BELLONE, E
    MANCARDI, G
    SCHENONE, A
    ABBRUZZESE, M
    ROCCHI, M
    AJMAR, F
    ARCHIDIACONO, N
    [J]. JOURNAL OF NEUROLOGY, 1995, 242 (05) : 295 - 298