ムコ多糖症(ハンタウェイ系)

ムコ多糖症(ハンタウェイ系)

¥16,600
  • TEST OVERVIEW:
  • カテゴリー:
    代謝疾患 - 細胞内の酵素および代謝プロセスに関連する疾患
  • static-content..gene:
    SGSH gene
  • Variant Detected:
    Nucleotide Insertion c.708-709insA p.frameshift and immediate chain termination at position 228
  • Severity:
    Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
  • MODE OF INHERITANCE:
    Autosomal Recessive
  • RESEARCH CITATION(S):
    Yogalingam G, Pollard T, Gliddon B et al. Identification of a mutation causing mucopolysaccharidosis type IIA in New Zealand Huntaway dogs. Genomics. 2002 Feb;79(2):150-153.

ムコ多糖症(ハンタウェイ系)

¥16,600

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