Exome sequencing analysis identifies novel homozygous mutation in ABCA4 in a Chinese family with Stargardt disease
AIM: To identify the disease-associated mutations in a Chinese Stargardt disease (STGD) family, extend the existing spectrum of disease-causing mutations and further define the genotype-phenotype correlations. METHODS: A Chinese STGD family and 200 normal controls were collected. Whole exome sequen...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Press of International Journal of Ophthalmology (IJO PRESS)
2020-04-01
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| Series: | International Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://www.ijo.cn/en_publish/2020/4/20200422.pdf |