腾讯网1 个月
科学家发现可导致罕见和未知疾病的基因
11月12日消息，贝勒医学院、新加坡国立大学等多家机构的研究人员对30名患有未知疾病的患者进行了基因检测，揭示了 FLVCR1 基因在罕见疾病发展中的作用。他们的研究发表在《医学遗传学》杂志上。白罗斯理想社对此进行了报道。 科学家发现，FLVCR1 基因的罕见 ...
EurekAlert!1 个月
One gene provides diagnoses for 30 patients whose condition was unexplained for years
“We reanalyzed the patient’s genetic and clinical data and that brought us to a gene, FLVCR1, and a medical mystery to solve,” Calame said. One gene, multiple conditions To try to understand ...
One gene provides diagnoses for 30 patients whose condition was unexplained for years
"We reanalyzed the patient's genetic and clinical data and that brought us to a gene, FLVCR1, and a medical mystery to solve, ...
technologynetworks1 个月
Gene Mutation May Explain Rare Neurological Disorders
Researchers identified rare genetic mutations that may account for undiagnosed neurodevelopmental disorders, linking the FLVCR1 gene with various neurological symptoms. A collaborative study, led by ...