New missense mutation p.Trp387Ser affecting the functionally important TrpXXTrp motif in the TSR1 repeat of ADAMTS13 metalloproteinase: Case report
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DOI: 10.1111/1440-1681.13697
Abstract: Upshaw‐Schulman syndrome (USS)—rare autosomal recessive disease that affects read more here.
Keywords: adamts13 gene; trp387ser; missense mutation; mutation trp387ser ... See more keywords