Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease.

Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease.

Diaphanous related formins are highly conserved proteins regulated by Rho-GTPases that act as actin nucleation and assembly factors. Here we report the functional characterization of a non-inherited heterozygous FMNL2 p.L136P mutation carried by a patient who presented with severe very early onset i...

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Autores principales: Raphael Trefzer, Orly Elpeleg, Tatyana Gabrusskaya, Polina Stepensky, Hagar Mor-Shaked, Robert Grosse, Dominique T Brandt
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2021
Materias:
Medicine
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Science
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Acceso en línea:https://doaj.org/article/4b2fe302d8c54a67a7cd3f72f09ac832
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