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First case of genetically confirmed CLN3 disease in Chinese..:
Lau, Nike Kwai Cheung
;
Ching, Chor Kwan
;
Lee, Hencher Han Chih
...
Clinica Chimica Acta. 486 (2018) - p. 151-155 , 2018
Link:
https://doi.org/10.1016/j.cca.2018.07.040
RT Journal T1
First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.cca.2018.07.040&Exemplar=1&LAN=DE A1 Lau, Nike Kwai Cheung A1 Ching, Chor Kwan A1 Lee, Hencher Han Chih A1 Chak, Wai Kwong Mario A1 Kwan Shing, Ng A1 Hanchard, Neil A. A1 Mak, Chloe Miu PB Elsevier BV YR 2018 SN 0009-8981 JF Clinica Chimica Acta VO 486 SP 151 OP 155 LK http://dx.doi.org/https://doi.org/10.1016/j.cca.2018.07.040 DO https://doi.org/10.1016/j.cca.2018.07.040 SF ELIB - SuUB Bremen
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