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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 : Tavian_2021_Eur.J.Transl.Myol__ |
ESTHER : Tavian_2021_Eur.J.Transl.Myol__ |
PubMedSearch : Tavian_2021_Eur.J.Transl.Myol__ |
PubMedID: 33985321 |
Gene_locus related to this paper: human-ABHD5 |