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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| Auteurs principaux: | , , , , , , |
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| Format: | article |
| Langue: | EN |
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Public Library of Science (PLoS)
2021
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| Accès en ligne: | https://doaj.org/article/4b2fe302d8c54a67a7cd3f72f09ac832 |
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