MYO5B , STX3 , and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update

Herschel S. Dhekne, Olena Pylypenko, Arend W. Overeem, Rosaria J. Ferreira, K. Joeri van der Velde, Edmond H.H.M. Rings, Carsten Posovszky, Morris A. Swertz, Anne Houdusse, Sven C.D. van IJzendoorn
  • Human Mutation, January 2018, Wiley
  • DOI: 10.1002/humu.23386

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http://dx.doi.org/10.1002/humu.23386

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