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Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
Eisenberger Tobias, Mansour Ahmad, Slim Rima, Nauck Markus, Nürnberg Gudrun, Nürnberg Peter, Decker Christian, Dafinger Claudia, Ebermann Inga, Bergmann Carsten, Bolz Hanno
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Savoirs
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
Eisenberger Tobias, Mansour Ahmad, Slim Rima, Nauck Markus, Nürnberg Gudrun, Nürnberg Peter, Decker Christian, Dafinger Claudia, Ebermann Inga, Bergmann Carsten, Bolz Hanno
6 pages
English
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MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
Haugarvoll Kristoffer, Johansson Stefan, Tzoulis Charalampos, Haukanes, Bredrup Cecilie, Neckelmann Gesche, Boman Helge, Knappskog, Bindoff
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Analysis of PDE6Dand PDE6Ggenes for generalised progressive retinal atrophy (gPRA) mutations in dogs
Dekomien Gabriele, Epplen
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