Application of targeted exome and whole‐exome sequencing for Chinese families with Stargardt disease
Author:
Affiliation:
1. Eye Center Renmin Hospital of Wuhan University Wuhan Hubei China
Funder
National Natural Science Foundation of China
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12361
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1. Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics
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3. Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease
4. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy
5. Penetrance of theABCA4p.Asn1868Ile Allele in Stargardt Disease
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2. Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease;Bioscience Reports;2021-06
3. Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2020-08-26
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