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| Title : Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene - Frasquet_2018_J.Neurol.Sci_387_134 |
| Author(s) : Frasquet M , Lupo V , Chumillas MJ , Vazquez-Costa JF , Espinos C , Sevilla T |
| Ref : Journal of Neurology Sci , 387 :134 , 2018 |
| Abstract : Frasquet_2018_J.Neurol.Sci_387_134 |
| ESTHER : Frasquet_2018_J.Neurol.Sci_387_134 |
| PubMedSearch : Frasquet_2018_J.Neurol.Sci_387_134 |
| PubMedID: 29571850 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4 - Claramunt_2007_Clin.Genet_71_343 |
| Author(s) : Claramunt R , Sevilla T , Lupo V , Cuesta A , Millan JM , Vilchez JJ , Palau F , Espinos C |
| Ref : Clin Genet , 71 :343 , 2007 |
| Abstract : Claramunt_2007_Clin.Genet_71_343 |
| ESTHER : Claramunt_2007_Clin.Genet_71_343 |
| PubMedSearch : Claramunt_2007_Clin.Genet_71_343 |
| PubMedID: 17470135 |
| Gene_locus related to this paper: human-NDRG1 |