Article
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.
European journal of human genetics : EJHG - 1 Aug 2002
Wutz Krisztina, Sauer Christian, Zrenner Eberhart, Lorenz Birgit, Alitalo Tiina, Broghammer Martina, Hergersberg Martin, de la Chapelle Albert, Weber Bernhard H F, Wissinger Bernd, Meindl Alfons, Pusch Carsten M
Abstract excerpt
X-linked CSNB patients may exhibit myopia, nystagmus, strabismus and ERG abnormalities of the Schubert-Bornschein type. We recently identified the retina-specific L-type calcium channel alpha1 subunit gene CACNA1F localised to the Xp11.23 region, which is mutated in families showing the incomplete type (CSNB2). Here, we report comprehensive mutation analyses in the 48 CACNA1F exons in 36 families, most of them...
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