Genotypes of SD patients analyzed in this study.
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ND: not detectable; NA: not available. Novel mutations are indicated in bold, *RefSeq cDNA:NM_000521. For cDNA numbering +1 corresponds to the A of the first ATG translation initiation codon. RefSeq protein: NP_000512.1. **indicates parents’ consanguinity. m: month; y: years; +deceased; §Owing to the use of different assay methods and tissue samples, total Hex activity values are expressed as a percentage of average control values.
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2015-12-02
