Browsing Centre for Clinical Pharmacology by Author "Wunderlich, G"

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    • An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy 

      Pagnamenta, AT; Kaiyrzhanov, R; Zou, Y; Da'as, SI; Maroofian, R; Donkervoort, S; Dominik, N; Lauffer, M; Ferla, MP; Orioli, A (2021-01-18)
      The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that ...