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Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR
by
Cremers, Frans P. M.
,
van de Pol, Dorien J. R.
,
van Driel, Marc
,
den Hollander, Anneke I.
,
van Haren, Frank J. J.
,
Knoers, Nine V. A. M.
,
Tijmes, Nel
,
Bergen, Arthur A. B.
,
Rohrschneider, Klaus
,
Blankenagel, Anita
,
Pinckers, Alfred J. L. G.
,
Deutman, August F.
,
Hoyng, Carel B.
Published in
Human molecular genetics
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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 Starga...
by
Maugeri, Alessandra
,
van Driel, Marc A.
,
van de Pol, Dorien J.R.
,
Klevering, B. Jeroen
,
van Haren, Frank J.J.
,
Tijmes, Nel
,
Bergen, Arthur A.B.
,
Rohrschneider, Klaus
,
Blankenagel, Anita
,
Pinckers, Alfred J.L.G.
,
Dahl, Niklas
,
Brunner, Han G.
,
Deutman, August F.
,
Hoyng, Carel B.
,
Cremers, Frans P.M.
Published in
American journal of human genetics
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American Journal Of Human Genetics
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Human Molecular Genetics
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Human Molecular Genetics Online/Human Molecular Genetics
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Atp-Binding Cassette Transporters - Genetics
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Base Sequence
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Biological And Medical Sciences
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Genetics & Heredity
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Humans
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Life Sciences & Biomedicine
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Medical Sciences
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Ophthalmology
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Retinitis Pigmentosa - Genetics
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Retinopathies
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Science & Technology
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Abcr
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Alleles
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Alternative Splicing
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Amino Acid Sequence
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Atp-Binding Cassette Transporters - Chemistry
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Biochemistry & Molecular Biology
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Cells, Cultured
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Chromosome Mapping
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Chromosomes, Human, Pair 1
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