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- aggregation classification "A1".
- aggregation creator B1033083.
- aggregation creator B1033084.
- aggregation creator B1033085.
- aggregation creator B1033086.
- aggregation creator B1033087.
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- aggregation creator person.
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- aggregation date "2015".
- aggregation format "application/pdf".
- aggregation hasFormat 5846962.bibtex.
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- aggregation hasFormat 5846962.dc.
- aggregation hasFormat 5846962.didl.
- aggregation hasFormat 5846962.doc.
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- aggregation hasFormat 5846962.yaml.
- aggregation isPartOf urn:issn:1059-7794.
- aggregation language "eng".
- aggregation rights "I have transferred the copyright for this publication to the publisher".
- aggregation subject "Medicine and Health Sciences".
- aggregation title "An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients".
- aggregation abstract "Autosomal-recessive Stargardt disease (STGD1) is hallmarked by a large proportion of patients with a single heterozygous causative variant in the disease gene ABCA4. Braun et al. () reported deep intronic variants of ABCA4 in STGD1 patients with one coding variant, prompting us to perform an augmented screen in 131 Belgian STGD1 patients with one or no ABCA4 variant to uncover deep intronic causal ABCA4 variants. This revealed a second variant in 28.6% of cases. Twenty-six percent of these carry the same causal variant c.4539+2001G>A (V4). Haplotyping in V4 carriers showed a common region of 63kb, suggestive of a founder mutation. Genotype-phenotype correlations suggest a moderate-to-severe impact of V4 on the STGD1 phenotype. In conclusion, V4 occurs in a high fraction of Belgian STGD1 patients and represents the first deep intronic founder mutation in ABCA4. This emphasizes the importance of augmented molecular genetic testing of ABCA4 in Belgian STGD1.".
- aggregation authorList BK1452948.
- aggregation endPage "42".
- aggregation issue "1".
- aggregation startPage "39".
- aggregation volume "36".
- aggregation aggregates 5847049.
- aggregation isDescribedBy 5846962.
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