学术探索
学术期刊
新闻热点
数据分析
智能评审

When is a deletion not a deletion? When it is converted

被引：228
作者：
Burghes, AHM
机构：
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1997年 / 61卷 / 01期
关键词：
D O I：
10.1086/513913
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：9 / 15
页数：7
相关论文
共 49 条
  • [1] BECKER PE, 1964, Z MENSCHL VERERB KON, V37, P193
  • [2] Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I
    Brahe, C
    Clermont, O
    Zappata, S
    Tiziano, F
    Melki, J
    Neri, G
    [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (12) : 1971 - 1976
  • [3] MAPPING OF 2 NEW MARKERS WITHIN THE SMALLEST INTERVAL HARBORING THE SPINAL MUSCULAR-ATROPHY LOCUS BY FAMILY AND RADIATION HYBRID ANALYSIS
    BRAHE, C
    VELONA, I
    VANDERSTEEGE, G
    ZAPPATA, S
    VANDEVEEN, AY
    OSINGA, J
    TOPS, CMJ
    FODDE, R
    KHAN, PM
    BUYS, CHCM
    NERI, G
    [J]. HUMAN GENETICS, 1994, 93 (05) : 494 - 501
  • [4] GENETIC-MAPPING OF CHRONIC CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY TO CHROMOSOME-5Q11.2-13.3
    BRZUSTOWICZ, LM
    LEHNER, T
    CASTILLA, LH
    PENCHASZADEH, GK
    WILHELMSEN, KC
    DANIELS, R
    DAVIES, KE
    LEPPERT, M
    ZITER, F
    WOOD, D
    DUBOWITZ, V
    ZERRES, K
    HAUSMANOWAPETRUSEWICZ, I
    OTT, J
    MUNSAT, TL
    GILLIAM, TC
    [J]. NATURE, 1990, 344 (6266) : 540 - 541
  • [5] A MULTICOPY DINUCLEOTIDE MARKER THAT MAPS CLOSE TO THE SPINAL MUSCULAR-ATROPHY GENE
    BURGHES, AHM
    INGRAHAM, SE
    MCLEAN, M
    THOMPSON, TG
    MCPHERSON, JD
    KOTEJARAI, Z
    CARPTEN, JD
    DIDONATO, CJ
    IKEDA, JE
    SURH, L
    WIRTH, B
    SARGENT, CA
    FERGUSONSMITH, MA
    FUERST, P
    MOYZIS, RK
    GRADY, DL
    ZERRES, K
    KORNELUK, R
    MACKENZIE, A
    WASMUTH, JJ
    [J]. GENOMICS, 1994, 21 (02) : 394 - 402
  • [6] LINKAGE MAPPING OF THE SPINAL MUSCULAR-ATROPHY GENE
    BURGHES, AHM
    INGRAHAM, SE
    KOTEJARAI, Z
    ROSENFELD, S
    HERTA, N
    NADKARNI, N
    DIDONATO, CJ
    CARPTEN, J
    HURKO, O
    FLORENCE, J
    MOXLEY, RT
    COBBEN, JM
    MENDELL, JR
    [J]. HUMAN GENETICS, 1994, 93 (03) : 305 - 312
  • [7] Burglen L, 1997, AM J HUM GENET, V60, P72
  • [8] Structure and organization of the human survival motor neurone (SMN) gene
    Burglen, L
    Lefebvre, S
    Clermont, O
    Burlet, P
    Viollet, L
    Cruaud, C
    Munnich, A
    Melki, J
    [J]. GENOMICS, 1996, 32 (03) : 479 - 482
  • [9] Burglen L, 1996, 1 C WORLD MUSCL SOC, pS39
  • [10] Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease
    Burlet, P
    Burglen, L
    Clermont, O
    Lefebvre, S
    Viollet, L
    Munnich, A
    Melki, J
    [J]. JOURNAL OF MEDICAL GENETICS, 1996, 33 (04) : 281 - 283
12345