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

Microvillus inclusion disease (MVID) is a rare but fatal autosomal recessive congenital diarrheal disorder caused by MYO5B mutations. In 2013, we launched an open‐access registry for MVID patients and their MYO5B mutations (www.mvid-central.org). Since then, additional unique MYO5B mutations have be...

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Detalles Bibliográficos
Autores principales: Dhekne, Herschel S., Pylypenko, Olena, Overeem, Arend W., Ferreira, Rosaria J., van der Velde, K. Joeri, Rings, Edmond H.H.M., Posovszky, Carsten, Swertz, Morris A., Houdusse, Anne, van IJzendoorn, Sven C.D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Mutation Updates
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838515/
https://www.ncbi.nlm.nih.gov/pubmed/29266534
http://dx.doi.org/10.1002/humu.23386

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838515/
https://www.ncbi.nlm.nih.gov/pubmed/29266534
http://dx.doi.org/10.1002/humu.23386

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