Výsledky vyhledávání - "Christine Duvigneau"

Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the β-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3

Autor: Suying Xu, Andreas Gal, Yoa Piczenik, Hans Eiberg, Christine Duvigneau, Eberhard Schwinger, Thomas Rosenberg

Publikováno v: Human Molecular Genetics. 3:323-325

We studied a large multigeneration Danish family with autosomal dominant congenital stationary night blindness. Both electrophysiological and psychophysical findings in affected family members were identical to those reported in patients from the 'No

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::401f70f6f70ff9b7b33f1138b74cd925
https://doi.org/10.1093/hmg/3.2.323

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Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin

Autor: Pamela Dickinson, Michael J. Denton, Christine Duvigneau, Sonja Krey, Sigrid Bartkowski, Holger Kranich, Andreas Gal

Publikováno v: Human molecular genetics. 2(6)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::675fb71cebe39397f7ef632d880a8289
https://pubmed.ncbi.nlm.nih.gov/8353500

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