Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene
Apfelstedt-Sylla, E, Theischen, M, Rüther, K, Wedemann, H, Gal, A, Zrenner, E
Published in British journal of ophthalmology (01.01.1995)
Published in British journal of ophthalmology (01.01.1995)
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Journal Article
Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa
Bunge, S., Wedemann, H., David, D., Terwilliger, D.J., van den Born, L.I., Aulehla-Scholz, C., Samanns, C., Horn, M., Ott, J., Schwinger, E., Schinzel, A., Denton, M.J., Gal, A.
Published in Genomics (San Diego, Calif.) (01.07.1993)
Published in Genomics (San Diego, Calif.) (01.07.1993)
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Journal Article
A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease
Fuchs, S, Xu, S Y, Caballero, M, Salcedo, M, La O, A, Wedemann, H, Gal, A
Published in Human molecular genetics (01.04.1994)
Published in Human molecular genetics (01.04.1994)
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Journal Article
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)
Fuchs, S, Sarde, C O, Wedemann, H, Schwinger, E, Mandel, J L, Gal, A
Published in Human molecular genetics (01.10.1994)
Published in Human molecular genetics (01.10.1994)
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Journal Article
Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and Gln344stop mutations of rhodopsin
Kremmer, S, Eckstein, A, Gal, A, Apfelstedt-Sylla, E, Wedemann, H, Rüther, K, Zrenner, E
Published in Graefe's archive for clinical and experimental ophthalmology (01.09.1997)
Published in Graefe's archive for clinical and experimental ophthalmology (01.09.1997)
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Journal Article
Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and GIn344stop mutations of rhodopsin
KREMMER, S, ECKSTEIN, A, GAL, A, APFELSTEDT-SYLLA, E, WEDEMANN, H, RÜTHER, K, ZRENNER, E
Published in Graefe's archive for clinical and experimental ophthalmology (01.09.1997)
Published in Graefe's archive for clinical and experimental ophthalmology (01.09.1997)
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Conference Proceeding
Journal Article
Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa
Millán, José M., Fuchs, Sigrid, Paricio, Nuria, Wedemann, Heike, Gal, Andreas, Nájera, Carmen, Prieto, Felix
Published in Molecular and cellular probes (01.02.1995)
Published in Molecular and cellular probes (01.02.1995)
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Journal Article