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The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes

  • K.S. Yeung
  • , F.N.Y. Yu
  • , C.W. Fung
  • , S. Wong
  • , H.H.C. Lee
  • , S.T.H. Fung
  • , G.P.G. Fung
  • , K.Y. Leung
  • , W.H. Chung
  • , Y.T. Lee
  • , V.K.S. Ng
  • , M.H.C. Yu
  • , J.L.F. Fung
  • , M.H.Y. Tsang
  • , K.Y.K. Chan
  • , S.H.S. Chan
  • , A.S.Y. Kan
  • , B.H.Y. Chung

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14 Citations (Scopus)

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