| Title : Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient - Minakawa_2024_Front.Med.(Lausanne)_11_1374222 |
| Author(s) : Minakawa S , Matsuzaki Y , Higashino T , Suzuki T , Tomita H , Akasaka E , Sawamura D |
| Ref : Front Med (Lausanne) , 11 :1374222 , 2024 |
| Abstract : |
| PubMedSearch : Minakawa_2024_Front.Med.(Lausanne)_11_1374222 |
| PubMedID: 38818404 |
| Gene_locus related to this paper: human-LIPH |
| 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 : |
| 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 : |
| PubMedSearch : Akiyama_2003_J.Invest.Dermatol_121_1029 |
| PubMedID: 14708602 |
| Gene_locus related to this paper: human-ABHD5 |