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Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation‐scanning methods. We aimed to develop a cost‐effective sequencing method for… Click to show full abstract
Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation‐scanning methods. We aimed to develop a cost‐effective sequencing method for ABCA4 exons and regions carrying known causal deep‐intronic variants.
Keywords:
deep intronic;
cost effective;
stargardt disease;
intronic variants
Journal Title: Human Mutation
Year Published: 2019
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Journal Title: Human Mutation
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!