A novel MLH1 intronic variant in a young Japanese patient with Lynch syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Human Genome Variation"
DOI: 10.1038/s41439-018-0002-1
Abstract: Lynch syndrome, an autosomal dominantly inherited disease, is characterized by an increased risk of developing colorectal cancer. We found a novel germline variant of MLH1 (IVS6+2T>C) that caused Lynch syndrome in a young Japanese patient… read more here.
Keywords: mlh1; variant; young japanese; japanese patient ... See more keywords
A Japanese Patient with Gaucher Disease Treated with the Oral Drug Eliglustat as Substrate Reducing Therapy
Sign Up to like & getrecommendations! Published in 2021 at "Case Reports in Gastroenterology"
DOI: 10.1159/000519005
Abstract: Gaucher disease is a rare genetic disorder caused by the deficiency of acid β-glucosidase to effectively catalyze the degradation of glucosylceramide to glucose and ceramide. We report here the case of a 31-year-old male Japanese… read more here.
Keywords: drug; japanese patient; gaucher disease; disease ... See more keywords
A Novel Microduplication Spanning Exons 8–16 of ATP2C1 That Was Undetectable by Standard Sanger Sequencing in a Japanese Patient With Hailey–Hailey Disease
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2020.00492
Abstract: Hailey–Hailey disease (HHD) is genetic skin disorder characterized by repeated and exacerbated skin lesions in friction regions. ATP2C1, encoding SPCA1, was demonstrated to be the responsible gene for HHD pathogenesis. However, for some cases, no… read more here.
Keywords: hailey disease; hailey; japanese patient; sanger sequencing ... See more keywords