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

Author(s):
Dhekne, H.S.; Pylypenko, O.; Overeem, A.W.; Ferreira, R.J.; Velde, K.J. van der; Rings, E.H.H.M.; Posovszky, C.; Swertz, M.A.; Houdusse, A.; IJzendoorn, S.C.D. van
Published
2018
Publication type
Article / Letter to editor
congenital diarrheal diseasesenteropathymicrovillus inclusion diseasemunc18-2MYO5Bmyosin VBSTX3STXBP2syntaxin-3
Date issued
2018-03-31
Language
English
Is part of
Human Mutation (2018), Vol. 39, no. 3, p. 333-344
hdl
1887/74933
doi
10.1002/humu.23386
URL
https://onlinelibrary.wiley.com/doi/epdf/10.1002/humu.23386