Full name :
First name :
Mail :
Zip Code :
City :
Country :
Email :
Phone :
Fax :
Website :
Directory :
| Title : Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy - Akiyama_2007_Muscle.Nerve_36_856 |
| Author(s) : Akiyama M , Sakai K , Ogawa M , McMillan JR , Sawamura D , Shimizu H |
| Ref : Muscle & Nerve , 36 :856 , 2007 |
| Abstract : Akiyama_2007_Muscle.Nerve_36_856 |
| ESTHER : Akiyama_2007_Muscle.Nerve_36_856 |
| PubMedSearch : Akiyama_2007_Muscle.Nerve_36_856 |
| PubMedID: 17657808 |
| Title : Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome - Akiyama_2003_J.Invest.Dermatol_121_1029 |
| Author(s) : Akiyama M , Sawamura D , Nomura Y , Sugawara M , Shimizu H |
| Ref : Journal of Investigative Dermatology , 121 :1029 , 2003 |
| Abstract : Akiyama_2003_J.Invest.Dermatol_121_1029 |
| ESTHER : Akiyama_2003_J.Invest.Dermatol_121_1029 |
| PubMedSearch : Akiyama_2003_J.Invest.Dermatol_121_1029 |
| PubMedID: 14708602 |
| Gene_locus related to this paper: human-ABHD5 |