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| Title : Mitochondrial hepato-encephalopathy due to deficiency of QIL1\/MIC13 (C19orf70), a MICOS complex subunit - Zeharia_2016_Eur.J.Hum.Genet_24_1778 |
| Author(s) : Zeharia A , Friedman JR , Tobar A , Saada A , Konen O , Fellig Y , Shaag A , Nunnari J , Elpeleg O |
| Ref : Eur J Hum Genet , 24 :1778 , 2016 |
| Abstract : Zeharia_2016_Eur.J.Hum.Genet_24_1778 |
| ESTHER : Zeharia_2016_Eur.J.Hum.Genet_24_1778 |
| PubMedSearch : Zeharia_2016_Eur.J.Hum.Genet_24_1778 |
| PubMedID: 27485409 |
| Title : Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency - Behar_2014_J.Lipid.Res_55_307 |
| Author(s) : Behar DM , Basel-Vanagaite L , Glaser F , Kaplan M , Tzur S , Magal N , Eidlitz-Markus T , Haimi-Cohen Y , Sarig G , Bormans C , Shohat M , Zeharia A |
| Ref : J Lipid Res , 55 :307 , 2014 |
| Abstract : Behar_2014_J.Lipid.Res_55_307 |
| ESTHER : Behar_2014_J.Lipid.Res_55_307 |
| PubMedSearch : Behar_2014_J.Lipid.Res_55_307 |
| PubMedID: 24262094 |
| Gene_locus related to this paper: human-PNLIP |