PRESYMPTOMATIC DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY (SMA)-III CONFIRMED BY DELETION ANALYSIS OF THE SURVIVAL MOTOR-NEURON GENE

被引：7
|
作者：
BRAHE, C [1 ]
ZAPPATA, S [1 ]
BERTINI, E [1 ]
机构：
[1] OSPED BAMBINO GESU,DIV NEUROPEDIAT,ROME,ITALY
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 59卷 / 01期
关键词：
D O I：
10.1002/ajmg.1320590121
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：101 / 102
页数：2
相关论文
共 50 条
  • [21] SMN GENE DELETION IN VARIANT OF INFANTILE SPINAL MUSCULAR-ATROPHY
    BURGLEN, L
    SPIEGEL, R
    IGNATIUS, J
    COBBEN, JM
    LANDRIEU, P
    LEFEBVRE, S
    MUNNICH, A
    MELKI, J
    LANCET, 1995, 346 (8970): : 316 - 317
  • [22] The survival motor neuron protein in spinal muscular atrophy
    Coovert, DD
    Le, TT
    McAndrew, PE
    Strasswimmer, J
    Crawford, TO
    Mendell, JR
    Coulson, SE
    Androphy, EJ
    Prior, TW
    Burghes, AHM
    HUMAN MOLECULAR GENETICS, 1997, 6 (08) : 1205 - 1214
  • [23] A CONTRIBUTION TO PHYSICAL MAPPING IN THE GENE REGION FOR SPINAL MUSCULAR-ATROPHY (SMA)
    HUSCHENBETT, J
    SPEER, A
    DAVIES, KE
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 380 - 380
  • [24] Copies of the survival motor neuron gene in spinal muscular atrophy: the more, the better
    Brahe, C
    NEUROMUSCULAR DISORDERS, 2000, 10 (4-5) : 274 - 275
  • [25] Deletions in the Survival Motor Neuron Gene in Iranian Patients with Spinal Muscular Atrophy
    Hasanzad, Mandana
    Golkar, Zahra
    Kariminejad, Roxana
    Hadavi, Valeh
    Almadani, Navid
    Afroozan, Fariba
    Salahshurifar, Iman
    Shafeghati, Yousef
    Kahrizi, Kimia
    Najmabadi, Hossein
    ANNALS ACADEMY OF MEDICINE SINGAPORE, 2009, 38 (02) : 139 - 141
  • [26] Genetic circuitry of Survival motor neuron, the gene underlying spinal muscular atrophy
    Sen, Anindya
    Dimlich, Douglas N.
    Guruharsha, K. G.
    Kankel, Mark W.
    Hori, Kazuya
    Yokokura, Takakazu
    Brachat, Sophie
    Richardson, Delwood
    Loureiro, Joseph
    Sivasankaran, Rajeev
    Curtis, Daniel
    Davidow, Lance S.
    Rubin, Lee L.
    Hart, Anne C.
    Van Vactor, David
    Artavanis-Tsakonas, Spyros
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2013, 110 (26) : E2371 - E2380
  • [27] Deletions in the survival motor neuron gene in Turkish spinal muscular atrophy patients
    Erdem, H
    Pehlivan, S
    Topaloglu, H
    Yalnizoglu, D
    Akcoren, Z
    JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (06) : 724 - 728
  • [28] Survival motor neuron (SMN) protein in spinal muscular atrophy
    Battaglia, G
    NEUROSCIENCE RESEARCH COMMUNICATIONS, 1999, 25 (02) : 61 - 70
  • [29] An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
    Wirth, B
    HUMAN MUTATION, 2000, 15 (03) : 228 - 237
  • [30] Survival Motor Neuron Gene Copy Number Analysis by Exome Sequencing Assisting Spinal Muscular Atrophy Diagnosis and Carrier Screening
    Liu, Bo
    Lu, Yulan
    Wu, Bingbing
    Yang, Lin
    Liu, Renchao
    Wang, Huijun
    Dong, Xinran
    Li, Gang
    Qin, Qian
    Zhou, Wenhao
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2020, 22 (05): : 619 - 628
12345