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An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease.
Mäkeläinen S, Gòdia M, Hellsand M, Viluma A, Hahn D, Makdoumi K, Zeiss CJ, Mellersh C, Ricketts SL, Narfström K, Hallböök F, Ekesten B, Andersson G, Bergström TF. Mäkeläinen S, et al. Among authors: narfstrom k. PLoS Genet. 2019 Mar 19;15(3):e1007873. doi: 10.1371/journal.pgen.1007873. eCollection 2019 Mar. PLoS Genet. 2019. PMID: 30889179 Free PMC article.
Inactivation of Pmel alters melanosome shape but has only a subtle effect on visible pigmentation.
Hellström AR, Watt B, Fard SS, Tenza D, Mannström P, Narfström K, Ekesten B, Ito S, Wakamatsu K, Larsson J, Ulfendahl M, Kullander K, Raposo G, Kerje S, Hallböök F, Marks MS, Andersson L. Hellström AR, et al. Among authors: narfstrom k. PLoS Genet. 2011 Sep;7(9):e1002285. doi: 10.1371/journal.pgen.1002285. Epub 2011 Sep 15. PLoS Genet. 2011. PMID: 21949658 Free PMC article.
117 results