外显率
麻痹
复合杂合度
突变
周期性麻痹
遗传学
医学
内科学
基因
生物
表型
外科
作者
Marius Kuhn,Karin Jurkat‐Rott,Frank Lehmann‐Horn
标识
DOI:10.1136/jnnp-2014-309293
摘要
Our study shows many different, rare KCNJ18 alterations in patients as well as controls. Only perhaps one meets the requirements of a disease-causing mutation. Therefore, KCNJ18 alterations are seldom pathogenic. Additional studies are required before patients with PP can be genetically diagnosed on the basis of a KCNJ18 variant alone.
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