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Article

Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease.

American journal of medical genetics. Part A - 1 Jan 2024

Finsterer Josef

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PMID: 37728247
DOI: 10.1002/ajmg.a.63404

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Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease.PMID 37728247Read ↗

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Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.Semantic proximity Read ↗

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Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.Semantic proximity Read ↗

Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomicsSemantic proximity Read ↗

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.Semantic proximity Read ↗

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