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Ribosomopathies are diseases caused by abnormalities in the structure or function of ribosomal component proteins or rRNA genes, or other genes whose products are involved in ribosome biogenesis.
, 核糖體病變（Ribosomopathy）是核糖體異常所致的遺傳疾病，為核糖體蛋白質或其他參與核糖體組裝的蛋白發生基因突變而使其無法正常組裝所致。已知核糖體病變導致的疾病包括多數的（DBA）、某些肌肉萎縮症、X染色體偶連的亞型、（TCS）、（SDS）、某些骨髓增生異常症候群、（NAIC）、（ACAS）、（BWCNS）、CHARGE聯合畸形與等，另外還有數種癌症可能為核糖體異常所致。許多疾病的致病機理與核糖體異常激活p53途徑有關。
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核糖體病變（Ribosomopathy）是核糖體異常所致的遺傳疾病，為核糖體蛋白質或其他參與核糖體組裝的蛋白發生基因突變而使其無法正常組裝所致。已知核糖體病變導致的疾病包括多數的（DBA）、某些肌肉萎縮症、X染色體偶連的亞型、（TCS）、（SDS）、某些骨髓增生異常症候群、（NAIC）、（ACAS）、（BWCNS）、CHARGE聯合畸形與等，另外還有數種癌症可能為核糖體異常所致。許多疾病的致病機理與核糖體異常激活p53途徑有關。
, Ribosomopathies are diseases caused by abnormalities in the structure or function of ribosomal component proteins or rRNA genes, or other genes whose products are involved in ribosome biogenesis.
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| rdfs:label |
核糖體病變
, Ribosomopathy
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