An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy
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 interacts with perlecan/collagen VI, appears to be involved in stabilizing extrac...
Main Authors: | , , , , , , |
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格式: | Journal article |
語言: | English |
出版: |
Oxford University Press
2021
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