| Title : Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome - |
| Author(s) : Takeichi T , Sugiura K , Tso S , Simpson MA , McGrath JA , Akiyama M |
| Ref : J Dermatol Sci , 81 :134 , 2016 |
| PubMedID: 26547112 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Loss of Dnmt3b function upregulates the tumor modifier Ment and accelerates mouse lymphomagenesis - Hlady_2012_J.Clin.Invest_122_163 |
| Author(s) : Hlady RA , Novakova S , Opavska J , Klinkebiel D , Peters SL , Bies J , Hannah J , Iqbal J , Anderson KM , Siebler HM , Smith LM , Greiner TC , Bastola D , Joshi S , Lockridge O , Simpson MA , Felsher DW , Wagner KU , Chan WC , Christman JK , Opavsky R |
| Ref : J Clinical Investigation , 122 :163 , 2012 |
| Abstract : |
| PubMedSearch : Hlady_2012_J.Clin.Invest_122_163 |
| PubMedID: 22133874 |
| Title : Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia - Simpson_2003_Am.J.Hum.Genet_73_1147 |
| Author(s) : Simpson MA , Cross H , Proukakis C , Pryde A , Hershberger R , Chatonnet A , Patton MA , Crosby AH |
| Ref : American Journal of Human Genetics , 73 :1147 , 2003 |
| Abstract : |
| PubMedSearch : Simpson_2003_Am.J.Hum.Genet_73_1147 |
| PubMedID: 14564668 |
| Gene_locus related to this paper: human-SPG21 |