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蛋白質編碼基因的突變 - Coggle Diagram
蛋白質編碼基因的突變
框移突變
Insertion
Tay-Sachs disease
HEXA序列被插入四個鹼基
GM2堆積
Deletion
點突變
nonsense mutation
Sickle cell disease
missense mutation
Beta-thalassemia major
silent mutation
外觀尚無差異
三核苷酸重複突變
Duplication
fragile X syndrome
Huntington's disease
Friedreich's ataxia
myotonic dystrophy