A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy |
| |
| Authors: | Takeshi Yamada Takuro Kobayashi |
| |
| Affiliation: | (1) Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University 60, Fukuoka 812–82, Japan Tel.: +81-92-641 1151, ext. 2284; Fax: +81-92-651 1314; e-mail: yamada@neuro.med.kyushu-u.ac.jp, JP |
| |
| Abstract: | 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. Received: 21 September 1995 |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
