Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation
杰拉什型远端遗传性运动神经元病是由一种新的SIGMAR1 c.500A>T错义突变引起的。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2019-106108
Ververis, Antonis; Dajani, Rana; Koutsou, Pantelitsa; Aloqaily, Ahmad; Nelson-Williams, Carol; Loring, Erin; Arafat, Ala; Mubaidin, Ammar Fayez; Horany, Khalid; Bader, Mai B; Al-Baho, Yaqoub; Ali, Bushra; Muhtaseb, Abdurrahman; DeSpenza, Tyrone Jr; Al-Qudah, Abdelkarim A; Middleton, Lefkos T; Zamba-Papanicolaou, Eleni; Lifton, Richard; Christodoulou, Kyproula