错义突变
外显率
先证者
遗传学
生物
基因
奈特林
突变
表型
轴突引导
受体
作者
Meagan Collins,Judith St‐Onge,Sabrina Schlienger,Nassima Boudrahem‐Addour,Lina Mougharbel,J. Michaud,Clara Frances Lloyd,Elena Bruneau,Cedric Roux,Ahmed N. Sahly,Bradley Osterman,Kenneth A. Myers,Guy A. Rouleau,Daniel Alexander Jimenez Cruz,Jean‐Baptiste Rivière,Andrea Accogli,Frédéric Charron,Myriam Srour
摘要
A genetic etiology can be identified in one third of CMM individuals, with DCC being the most common gene involved. Two thirds of CMM individuals were unsolved, highlighting that CMM is genetically heterogeneous and other CMM genes are yet to be discovered. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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