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常染色体显性遗传脊髓小脑型共济失调6型一家系 被引量:3

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出处 《中华医学遗传学杂志》 CAS CSCD 2002年第4期316-316,共1页 Chinese Journal of Medical Genetics
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参考文献5

  • 1Jodice C,Mantuano E,Veneziano L,et al.Episodic ataxia type 2 and spinocerebellar ataxia type 6 ( SCA6 ) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p[].Human Molecular Genetics.1997
  • 2Tang BS,Liu CY,Shen L,et al.Frequency of SCA1, SCA2,SCA3 MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds[].Archives of Neurology.2000
  • 3Bingwen S,Lu YC,Kongbung C,et al.Frequency analysis of autosomal dominant cerebellar ataxias in Taiwan Residents patients and clinical and molecular characterization of spinocerebellar ataxia type 6[].Archives of Neurology.2001
  • 4Zhuchenko O,Bailey J,Bonnen P,et al.Autosomal dominant cerebellar ataxia ( SCA6 ) associated with small polyglutamine expansions in the alpha 1 A-voltage-dependent calcium channel[].Nature Genetics.1997
  • 5Watanabe H,Tanaka F,Matsumoto M,et al.Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6[].Clinical Genetics.1998

同被引文献34

  • 1谢秋幼,李洵桦,梁秀龄.脊髓小脑性共济失调6型的分子遗传学诊断及临床特点[J].临床神经病学杂志,2004,17(5):321-323. 被引量:5
  • 2许波,唐北沙,张玉虎,江泓,郭纪锋,刘小民,汤建光,沈璐.脊髓小脑型共济失调6型患者的临床特征及基因突变分析[J].临床神经病学杂志,2006,19(2):81-83. 被引量:3
  • 3Sambrook J , Fritsch EF , Maniatis TM. Molecular cloning : a laboratorymannual[M]. 2nd ed. New York : CSH Laboratory Press, Cold Spring Harbor, 1989. 86-87.
  • 4Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-de -pendent calcium eharmel[J]. Nat Genet, 1997, 15(1): 62-69.
  • 5Soong BW, Lu YC, Choo KB, et at. Frequency analysis of autosomal dominant cerebellar ataxias in Taiwan Residents patients and clinical and molecular characterization of sp inocerebellar ataxia type 6 [J]. Arch Neurol, 2001, 58(7) : 1105-1109.
  • 6Harding AE. Clinical features and classification of inherited ataxias [J]. Adv Neurol, 1993, 61: 1-14.
  • 7Tan EK, Ashizawa T. Genetic testing in spinocerebellar atardas[J].Arch Neurol, 2001, 58(2): 191-195.
  • 8梁秀龄.神经系统遗传性疾病[M](第1版)[M].北京:人民军医出版社,2001.159-160.
  • 9Zhuchen KO, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small ployglutamine expansion in the alpha 1A-voltage-dependent calcium channel[J]. Nat Genet, 1997,15:62.
  • 10Harding AE. Clinical features and classification of inherited ataxias[J]. Adv Neurol, 1993,61:1.

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