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...

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書目詳細資料
Main Authors: Pagnamenta, A, Kaiyrzhanov, R, Zou, Y, Taylor, J, Ferla, M, Nemeth, A, Et al.
格式: Journal article
語言:English
出版: Oxford University Press 2021