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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 |