ホスホフルクトキナーゼ欠損症(ジャーマンスパニエル系)

ホスホフルクトキナーゼ欠損症(ジャーマンスパニエル系)

¥16,600
  • TEST OVERVIEW:
    Shar-Pei Autoinflammatory Disease (SPAID) is defined by ongoing episodes of fever and inflammation with no known pathogenic or autoimmune cause. SPAID is usually associated by five signs of inflammation, Familial Shar-Pei Fever (FSF), Arthritis, Vesicular Hyaluronosis, Otitis and Amyloidosis. Please Note: The genetic variant linked to SPAID has also been associated with the increased expression of Hyaluronan Synthase 2 (HAS2), the driver of long-chain hyaluronan (HA) synthesis. The elevated expression of HAS2 results in hereditary cutaneous hyaluronanosis, and the breed’s heavily thickened and wrinkled skin.
  • 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:
    PFKM
  • Variant Detected:
    c.550C>T
  • Severity:
    It is a trait and so is tested based on preference, not usually for health concerns.
  • MODE OF INHERITANCE:
    Autosomal Recessive
  • RESEARCH CITATION(S):
    http://www.ncbi.nlm.nih.gov/pubmed/22446493

ホスホフルクトキナーゼ欠損症(ジャーマンスパニエル系)

¥16,600

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