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| Title : A novel homozygous nonsense variant of LMF1 in pregnancy-induced hypertriglyceridemia with acute pancreatitis - Tanaka_2023_J.Clin.Lipidol__ |
| Author(s) : Tanaka M , Takase S , Ishiura H , Yamauchi T , Okazaki S , Okazaki H |
| Ref : J Clin Lipidol , : , 2023 |
| Abstract : Tanaka_2023_J.Clin.Lipidol__ |
| ESTHER : Tanaka_2023_J.Clin.Lipidol__ |
| PubMedSearch : Tanaka_2023_J.Clin.Lipidol__ |
| PubMedID: 37005154 |
| Title : VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia - Koh_2020_Mol.Genet.Genomic.Med_8_e1108 |
| Author(s) : Koh K , Ishiura H , Shimazaki H , Tsutsumiuchi M , Ichinose Y , Nan H , Hamada S , Ohtsuka T , Tsuji S , Takiyama Y |
| Ref : Mol Genet Genomic Med , 8 :e1108 , 2020 |
| Abstract : Koh_2020_Mol.Genet.Genomic.Med_8_e1108 |
| ESTHER : Koh_2020_Mol.Genet.Genomic.Med_8_e1108 |
| PubMedSearch : Koh_2020_Mol.Genet.Genomic.Med_8_e1108 |
| PubMedID: 31876103 |
| Title : Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses - Ishiura_2014_J.Hum.Genet_59_163 |
| Author(s) : Ishiura H , Takahashi Y , Hayashi T , Saito K , Furuya H , Watanabe M , Murata M , Suzuki M , Sugiura A , Sawai S , Shibuya K , Ueda N , Ichikawa Y , Kanazawa I , Goto J , Tsuji S |
| Ref : J Hum Genet , 59 :163 , 2014 |
| Abstract : Ishiura_2014_J.Hum.Genet_59_163 |
| ESTHER : Ishiura_2014_J.Hum.Genet_59_163 |
| PubMedSearch : Ishiura_2014_J.Hum.Genet_59_163 |
| PubMedID: 24451228 |
| Gene_locus related to this paper: human-SPG21 |