In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration
犬 PITRM1 的框内缺失与严重的早发性癫痫、线粒体功能障碍和神经退行性病变有关
期刊:Human Genetics
影响因子:3.8
doi:10.1007/s00439-021-02279-y
Marjo K Hytönen, Riika Sarviaho, Christopher B Jackson, Pernilla Syrjä, Tarja Jokinen, Kaspar Matiasek, Marco Rosati, Cristina Dallabona, Enrico Baruffini, Ileana Quintero, Meharji Arumilli, Geoffray Monteuuis, Jonas Donner, Marjukka Anttila, Anu Suomalainen, Laurence A Bindoff, Hannes Lohi