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The 2588G-->C mutat...
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
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Maugeri, A. (author)
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van Driel, M.A. (author)
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van de Pol, D.J. (author)
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Klevering, B.J. (author)
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van Haren, F.J. (author)
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Tijmes, N. (author)
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Bergen, A.A. (author)
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Rohrschneider, K. (author)
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Blankenagel, A. (author)
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Pinckers, A.J. (author)
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- Dahl, Niklas (author)
- Uppsala universitet,Institutionen för genetik och patologi,Clin Mol genet
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Brunner, H.G. (author)
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Deutman, A.F. (author)
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Hoyng, C.B. (author)
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Cremers, F.P. (author)
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(creator_code:org_t)
- 1999
- 1999
- English.
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In: American Journal of Human Genetics. - 0002-9297 .- 1537-6605. ; 64:4, s. 1024-35
- Related links:
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https://urn.kb.se/re...
Abstract
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- In 40 western European patients with Stargardt disease (STGD), we found 19 novel mutations in the retina-specific ATP-binding cassette transporter (ABCR) gene, illustrating STGD's high allelic heterogeneity. One mutation, 2588G-->C, identified in 15 (37.5%) patients, shows linkage disequilibrium with a rare polymorphism (2828G-->A) in exon 19, suggesting a founder effect. The guanine at position 2588 is part of the 3' splice site of exon 17. Analysis of the lymphoblastoid cell mRNA of two STGD patients with the 2588G-->C mutation shows that the resulting mutant ABCR proteins either lack Gly863 or contain the missense mutation Gly863Ala. We hypothesize that the 2588G-->C alteration is a mild mutation that causes STGD only in combination with a severe ABCR mutation. This is supported in that the accompanying ABCR mutations in at least five of eight STGD patients are null (severe) and that a combination of two mild mutations has not been observed among 68 STGD patients. The 2588G-->C mutation is present in 1 of every 35 western Europeans, a rate higher than that of the most frequent severe autosomal recessive mutation, the cystic fibrosis conductance regulator gene mutation DeltaPhe508. Given an STGD incidence of 1/10,000, homozygosity for the 2588G-->C mutation or compound heterozygosity for this and other mild ABCR mutations probably does not result in an STGD phenotype.
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- MEDICINE
- MEDICIN
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- art (subject category)
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- By the author/editor
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Maugeri, A.
-
van Driel, M.A.
-
van de Pol, D.J.
-
Klevering, B.J.
-
van Haren, F.J.
-
Tijmes, N.
-
show more...
-
Bergen, A.A.
-
Rohrschneider, K ...
-
Blankenagel, A.
-
Pinckers, A.J.
-
Dahl, Niklas
-
Brunner, H.G.
-
Deutman, A.F.
-
Hoyng, C.B.
-
Cremers, F.P.
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show less...
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American Journal ...
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Uppsala University