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Updated: Sep 10, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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眼皮性アルビニズム1Aの遺伝子診断:新しいTYR型

Raghad N Shihab1, Rusul Thabit Hamid1, Mostafa Neissi2,3,4

  • 1Cancer Researches Department, Iraqi Center for Cancer and Medical Genetic Research Mustansiriyah University Baghdad Iraq.

Clinical case reports
|August 27, 2025
PubMed
まとめ

研究者らは,眼皮アルビニズム型IA (OCA1A) の患者で新しいTYR遺伝子変異p.Gln48Proを特定した. この 発見 は,アルビニズム の 既知 な 遺伝 的 な 原因 を 拡大 し,遺伝子 検査 の 価値 を 強調 し て い ます.

キーワード:
TYR遺伝子エクソームシーケンシング眼皮アルビニズムバリアント

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