Welcome to the new website of the EMHG. Have fun exploring the new look and functionality.
Currently the 'genetic browser' (searching RYR1) is not available. This will be made available in a future update.
You are free to comment on the new website.
The EMHG is pleased to announce a new possibility for smaller research grants.
Applications are invited for EMHG Young Investigator Research Grants which are intended for researchers seeking smaller amounts of money to undertake projects of relatively modest size.
The list of diagnostic mutations has just been expanded and now totals to 42. Those just added are:
| # | Exon | Nucleotide | Aminoacid |
|---|---|---|---|
| 7 | 12 | c.1201C>T | p.401Arg>Cys |
| 20 | 44 | c.7042_7044del | p.2348Gln>del |
| 22 | 44 | c.7063C>T | p.2355Arg>Trp |
| 34 | 63 | c.9310G>A | p.3104Glu>Lys |
| 35 | 84 | c.11969G>T | p.3990Gly>Val |
| 40 | 101 | c.14545G>A | p.4849Val>Ile |
