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RABL2B基因突变伴智能落后及多动症1例 |
朱丽娜,刘欣,王春枝,王艳,杨晓,彭薇,王蔚,马宁 |
北京军区总医院附属八一儿童医院临床遗传学中心,北京100700 |
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RABL2B gene mutation in a girl with mental retardation and hyperactivity |
ZHU Li-Na, LIU Xin, WANG Chun-Zhi, WANG Yan, YANG Xiao, PENG Wei, WANG Wei, MA Ning. |
Department of Clinical Genetics, Bayi Children's Hospital, General Hospital Of Beijing Commamd, Beijing 100700, China |
| [1]Wong AC, Shkolny D, Dorman A, Willingham D, Roe BA, McDermid HE. Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13[J]. Genomics, 1999, 59(3): 326-334.
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| [2]Anderlid BM, Schoumans J, Annerén G, Tapia-paezi, Dumanski J, Blennow E, et al. FISH-mapping of a 100-kb terminal 22q13 deletion [J]. Hum Genet , 2002, 110(5): 439-443.
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| [3]Flint J, Wilike AO, Buckle VJ, Winter, RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation [J]. Nat Genet, 1995, 9(2): 132-140.
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| [4]Luciani JJ, de Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, et al. Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations[J]. J Med Genet, 2003, 40(9): 690-696.
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| [5]Novelli A, Ceccarini C, Bernardini L, Zuccarello D, Caputo V, Diqilio MC, et al. High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism[J]. Clin Genet, 2004, 66(1):30-38.
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