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An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Strom, T M, Nyakatura, G, Apfelstedt-Sylla, E, Hellebrand, H, Lorenz, B, Weber, Bernhard H. F. , Wutz, K, Gutwillinger, N, Rüther, K, Drescher, B, Sauer, C G, Zrenner, E, Meitinger, T, Rosenthal, A and Meindl, A (1998) An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nature Genetics 19, pp. 260-263.

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Abstract

The locus for the incomplete form of X-linked congenital stationary night blindness (CSNB2) maps to a 1.1-Mb region in Xp11.23 between markers DXS722 and DXS255. We identified a retina-specific calcium channel alpha 1-subunit gene (CACNA1F) in this region, consisting of 48 exons encoding 1966 amino acids and showing high homology to L-type calcium channel alpha 1−subunits. Mutation analysis in 13 ...

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Item type:Article
Date:1998
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1038/940DOI
9662399PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:35369
Owner only: item control page
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