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    A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans

    A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans per Samer Khateb, Björn Kowalewski, Nicola Bedoni, Markus Daμμe, Netta Pollack, Ann Saada, Alexey Obolensky, Tamar Ben‐Yosef, Menachem Gross, Thomas Dierks, Eyal Banin, Carlo Rivolta, Dror Sharon

    Publicat 2018
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