Yamada T, Kobayashi T
Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Hum Genet. 1996 May;97(5):693-4. doi: 10.1007/BF02281886.
Sequencing of the STA gene in a patient with Emery-Dreifuss muscular dystrophy showed a 1-bp deletion of C at nucleotide 672 or 673. This deletion causes a frameshift, changing the amino acid sequence (amino acids 206-235) and generating an early stop codon.
对一名患有Emery-Dreifuss型肌营养不良症患者的STA基因进行测序，结果显示在核苷酸672或673处有一个C的1个碱基对缺失。这种缺失导致移码，改变了氨基酸序列（氨基酸206 - 235）并产生一个提前终止密码子。
