| Title : Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome - Tavian_2021_Eur.J.Transl.Myol__ |
| Author(s) : Tavian D , Durdu M , Angelini C , Torre E , Missaglia S |
| Ref : Eur J Transl Myol , : , 2021 |
| Abstract : |
| PubMedSearch : Tavian_2021_Eur.J.Transl.Myol__ |
| PubMedID: 33985321 |
| Gene_locus related to this paper: human-ABHD5 |