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Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina

Wutz, K, Sauer, C, Zrenner, E, Lorenz, B, Alitalo, T, Broghammer, M, Hergersberg, M, de La Chapelle, A, Weber, Bernhard H. F. , Wissinger, B, Meindl, A and Pusch, C M (2002) Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. European Journal of Human Genetics 10 (8), pp. 449-456.

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Abstract

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 ...

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Item type:Article
Date:2002
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1038/sj.ejhg.5200828DOI
12111638PubMed ID
Keywords:ophthalmogenetics; mutation screening; CSNB2
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:35489
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