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BMJ Journals

genetic research

Globotriaosylsphingosine (lyso-Gb₃) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort
Grigoris Effraimidis, Ulla Feldt-Rasmussen, Åse Krogh Rasmussen, Pamela Lavoie, Mona Abaoui, Michel Boutin, Christiane Auray-Blais

Journal of Medical Genetics Oct 2021, 58 (10) 692-700; DOI: 10.1136/jmedgenet-2020-107162
Comprehensive characteristics of somatic mutations in the normal tissues of patients with cancer and existence of somatic mutant clones linked to cancer development
Ji-Hye Oh, Chang Ohk Sung

Journal of Medical Genetics Jul 2021, 58 (7) 433-441; DOI: 10.1136/jmedgenet-2020-106905

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