Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
丙氨酰-tRNA合成酶活性不足是导致进行性小头畸形、髓鞘形成不足和癫痫性脑病的常染色体隐性遗传综合征的根本原因
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23250
Nakayama Tojo, Wu Jiang, Galvin-Parton Patricia, Weiss Jody, Andriola Mary R, Hill R Sean, Vaughan Dylan J, El-Quessny Malak, Barry Brenda J, Partlow Jennifer N, Barkovich A James, Ling Jiqiang, Mochida Ganeshwaran H
