Full name :
First name :
Mail :
Zip Code :
City :
Country :
Email :
Phone :
Fax :
Website :
Directory :
| Title : EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence - Gautheron_2021_Elife_10_ |
| Author(s) : Gautheron J , Morisseau C , Chung WK , Zammouri J , Auclair M , Baujat G , Capel E , Moulin C , Wang Y , Yang J , Hammock BD , Cerame B , Phan F , Feve B , Vigouroux C , Andreelli F , Jeru I |
| Ref : Elife , 10 : , 2021 |
| Abstract : Gautheron_2021_Elife_10_ |
| ESTHER : Gautheron_2021_Elife_10_ |
| PubMedSearch : Gautheron_2021_Elife_10_ |
| PubMedID: 34342583 |
| Gene_locus related to this paper: human-EPHX1 |
| Title : The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations - Lumish_2014_JIMD.Rep_16_75 |
| Author(s) : Lumish HS , Yang Y , Xia F , Wilson A , Chung WK |
| Ref : JIMD Rep , 16 :75 , 2014 |
| Abstract : Lumish_2014_JIMD.Rep_16_75 |
| ESTHER : Lumish_2014_JIMD.Rep_16_75 |
| PubMedSearch : Lumish_2014_JIMD.Rep_16_75 |
| PubMedID: 24997715 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Intragenic deletion as a novel type of mutation in Wolman disease - Lee_2011_Mol.Genet.Metab_104_703 |
| Author(s) : Lee TM , Welsh M , Benhamed S , Chung WK |
| Ref : Mol Genet Metab , 104 :703 , 2011 |
| Abstract : Lee_2011_Mol.Genet.Metab_104_703 |
| ESTHER : Lee_2011_Mol.Genet.Metab_104_703 |
| PubMedSearch : Lee_2011_Mol.Genet.Metab_104_703 |
| PubMedID: 21963785 |