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 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