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Updated: Jun 27, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

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两种PI4KA的小说变体在一个家族呈现与遗传性性:一个案例报告

Jevin M Parmar1, Elyshia L McNamara1, Phillipa J Lamont1

  • 1From the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology (K.R.K.), Concord Repatriation General Hospital; and School of Medical Sciences (M.S.), University of Sydney, Camperdown, Australia.

Neurology. Genetics
|April 30, 2024
PubMed
概括

在两位患有遗传性性帕帕雷雷斯症的姐妹中,发现了新的双基因酸4-酶α (PI4KA) 基因变异. 这些发现扩大了与PI4KA相关的疾病谱.

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