Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model

The combined phenotype of thrombocytopenia accompanied by intellectual disability in patients with a de novo heterozygous mutation, i.e., p.Tyr64Cys in CDC42, signifies a clinically recognizable novel syndrome that has been eponymized as “Takenouchi-Kosaki syndrome” (OMIM #616737). In the present st...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Sci Rep
Autors principals: Uehara, Tomoko, Suzuki, Hidenori, Okamoto, Nobuhiko, Kondoh, Tatsuro, Ahmad, Ayesha, O’Connor, Bridget C., Yoshina, Sawako, Mitani, Shohei, Kosaki, Kenjiro, Takenouchi, Toshiki
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2019
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6418278/
https://ncbi.nlm.nih.gov/pubmed/30872706
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-40988-7
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars