TSEN和CASK基因的突变在2型和4型脑桥小脑发育不全中很常见。 - Suppr | 超能文献

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.

作者信息

Valayannopoulos Vassili, Michot Caroline, Rodriguez Diana, Hubert Laurence, Saillour Yoann, Labrune Philippe, de Laveaucoupet Jocelyne, Brunelle Francis, Amiel Jeanne, Lyonnet Stanislas, Enza-Razavi Ferechté, Attié-Bitach Tania, Lacombe Didier, Bahi-Buisson Nadia, Desguerre Isabelle, Chelly Jamel, Burglen Lydie, Boddaert Nathalie, de Lonlay Pascale

出版信息

Brain. 2012 Jan;135(Pt 1):e199; author reply e200. doi: 10.1093/brain/awr108. Epub 2011 May 23.

DOI:10.1093/brain/awr108

Abstract

摘要

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