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1 Ergebnisse
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Identification of the first Alu-mediated gross deletion inv..:
Ma, Shujun
;
Zhang, Zhongxin
;
Fu, Yanyan
...
Clinica Chimica Acta. 517 (2021) - p. 23-30 , 2021
Link:
https://doi.org/10.1016/j.cca.2021.01.023
RT Journal T1
Identification of the first Alu-mediated gross deletion involving the BCKDHA gene in a compound heterozygous patient with maple syrup urine disease
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.cca.2021.01.023&Exemplar=1&LAN=DE A1 Ma, Shujun A1 Zhang, Zhongxin A1 Fu, Yanyan A1 Zhang, Mingxia A1 Niu, Yuna A1 Li, Ruiguang A1 Guo, Qinghe A1 He, Zhian A1 Zhao, Qingwei A1 Song, Zhishan A1 Wang, Xia A1 Sun, Ruili PB Elsevier BV YR 2021 SN 0009-8981 JF Clinica Chimica Acta VO 517 SP 23 OP 30 LK http://dx.doi.org/https://doi.org/10.1016/j.cca.2021.01.023 DO https://doi.org/10.1016/j.cca.2021.01.023 SF ELIB - SuUB Bremen
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