| 发明名称 |
FHL1 MUTATIONS ASSOCIATED WITH NOVEL X-LINKED MUSCULAR MYOPATHIES |
| 摘要 |
Four and a Half LIM domains protein 1 (FHL-1) mutations at positions 128 or 224 that are associated with X-linked muscular myopathy, methods of screening subjects to identify those susceptible to muscular myopathy including muscular dystrophy and cardiomyopathy and kits. |
| 申请公布号 |
US2016002309(A1) |
申请公布日期 |
2016.01.07 |
| 申请号 |
US201514835869 |
申请日期 |
2015.08.26 |
| 申请人 |
Centre For Addiction And Mental Health |
发明人 |
VINCENT John;WINDPASSINGER Christian;QUASTHOFF Stefan |
| 分类号 |
C07K14/47;G01N33/68;C12Q1/68 |
主分类号 |
C07K14/47 |
| 代理机构 |
|
代理人 |
|
| 主权项 |
1. A protein comprising amino acids 1-230 of SEQ ID NO:1, a fragment thereof or a sequence exhibiting at least 70% identity thereto and comprising the amino acid sequence VAKKCX1GX2X3NPIT (SEQ ID NO:4) wherein X2 is any amino acid except C; and X1 and X3 are independently any amino acid. |
| 地址 |
Toronto CA |
