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J-GLOBAL ID:201602285773175181   Reference number:16A0799876

Case study of a spinal muscular atrophy type 1 patient retaining one allele of the SMN1 gene

SMN1遺伝子内に微小変異を認めた脊髄性筋萎縮症1型の1例
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Material:
Volume: 48  Issue:Page: 343-346  Publication year: Sep. 01, 2016 
JST Material Number: S0502B  ISSN: 0029-0831  Document type: Article
Article type: 原著論文  Country of issue: Japan (JPN)  Language: JAPANESE (JA)
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Clinical medicine on musculoskeletal system in general  ,  Genetic variation 
Reference (13):
  • 1) Nurputra DK, Lai PS, Harahap NI, et al. Spinal muscular atrophy: from gene discovery to clinical trials. Ann Hum Genet 2013; 77: 435-63.
  • 2) Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995; 80: 155-65.
  • 3) Yamamoto T, Sato H, Lai PS, et al. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients. Brain Dev 2014; 36: 914-20.
  • 4) Yamada H, Nishida Y, Maihara T, et al. Two Japanese patients with SMA type 1 suggest that axonal-SMN may not modify the disease severity. Pediatr Neurol 2015; 52: 638-41.
  • 5) Alías L, Bernal S, Fuentes-Prior P, et al. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet 2009; 125: 29-39.
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