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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 由 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

    出版 2018
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