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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: hallbook f. 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: hallbook f. 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.
The evolution of Sex-linked barring alleles in chickens involves both regulatory and coding changes in CDKN2A.
Schwochow Thalmann D, Ring H, Sundström E, Cao X, Larsson M, Kerje S, Höglund A, Fogelholm J, Wright D, Jemth P, Hallböök F, Bed'Hom B, Dorshorst B, Tixier-Boichard M, Andersson L. Schwochow Thalmann D, et al. Among authors: hallbook f. PLoS Genet. 2017 Apr 7;13(4):e1006665. doi: 10.1371/journal.pgen.1006665. eCollection 2017 Apr. PLoS Genet. 2017. PMID: 28388616 Free PMC article.
Copy number variation in intron 1 of SOX5 causes the Pea-comb phenotype in chickens.
Wright D, Boije H, Meadows JR, Bed'hom B, Gourichon D, Vieaud A, Tixier-Boichard M, Rubin CJ, Imsland F, Hallböök F, Andersson L. Wright D, et al. Among authors: hallbook f. PLoS Genet. 2009 Jun;5(6):e1000512. doi: 10.1371/journal.pgen.1000512. Epub 2009 Jun 12. PLoS Genet. 2009. PMID: 19521496 Free PMC article.
The Rose-comb mutation in chickens constitutes a structural rearrangement causing both altered comb morphology and defective sperm motility.
Imsland F, Feng C, Boije H, Bed'hom B, Fillon V, Dorshorst B, Rubin CJ, Liu R, Gao Y, Gu X, Wang Y, Gourichon D, Zody MC, Zecchin W, Vieaud A, Tixier-Boichard M, Hu X, Hallböök F, Li N, Andersson L. Imsland F, et al. Among authors: hallbook f. PLoS Genet. 2012 Jun;8(6):e1002775. doi: 10.1371/journal.pgen.1002775. Epub 2012 Jun 28. PLoS Genet. 2012. PMID: 22761584 Free PMC article.
105 results