| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8313373 | Clinica Chimica Acta | 2013 | 7 Pages |
Abstract
⺠A total of nine Taiwanese DS patients were enrolled in this genetic study. ⺠We identified five novel mutations in the SCN1A gene. ⺠Genome copy number variation analysis detected a novel duplication region, 4q13.1-q13.2, in one DS patient. ⺠This variant region contained a gene, EPHA5, related to cerebral neuron development. This region should be correlated with DS.
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Authors
Wei-De Lin, Kai-Ping Chang, Chung-Hsing Wang, Shyi-Jou Chen, Pi-Chuan Fan, Wen-Chin Weng, Wei-Chiang Lin, Yushin Tsai, Chang-Hai Tsai, I-Ching Chou, Fuu-Jen Tsai,