Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8309425 | Clinica Chimica Acta | 2018 | 14 Pages |
Abstract
Here we report the first genetically confirmed CLN3 disease in Chinese, with a novel splice site variant with proposed pathogenetic mechanism relating gene and protein, and highlights the potential ethnic differences in the mutation spectrum. We wish to establish the importance of clinical awareness and laboratory diagnosis of CLN3 disease, especially in the promising age of gene therapy.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biochemistry
Authors
Nike Kwai Cheung Lau, Chor Kwan Ching, Hencher Han Chih Lee, Wai Kwong Mario Chak, Kwan Shing Ng, Neil A. Hanchard, Chloe Miu Mak,