Identification of the first Alu-mediated gross deletion involving the BCKDHA gene in a compound heterozygous patient with maple syrup urine disease

Publication date: Available online 16 February 2021Source: Clinica Chimica ActaAuthor(s): Shujun Ma, Zhongxin Zhang, Yanyan Fu, Mingxia Zhang, Yuna Niu, Ruiguang Li, Qinghe Guo, Zhian He, Qingwei Zhao, Zhishan Song, Xia Wang, Ruili Sun
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research