Cargando…
Phenotypic heterogeneity in individuals with MECOM variants in 2 families
Autores principales: | Niihori, Tetsuya, Tanoshima, Reo, Sasahara, Yoji, Sato, Atsushi, Irie, Masahiro, Saito-Nanjo, Yuka, Funayama, Ryo, Shirota, Matsuyuki, Abe, Taiki, Okuyama, Yuko, Ishii, Naoto, Nakayama, Keiko, Kure, Shigeo, Imaizumi, Masue, Aoki, Yoko |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society of Hematology
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631710/ https://www.ncbi.nlm.nih.gov/pubmed/35020829 http://dx.doi.org/10.1182/bloodadvances.2020003812 |
Ejemplares similares
-
Reduced-intensity conditioning is effective for allogeneic hematopoietic stem cell transplantation in infants with MECOM-associated syndrome
por: Irie, Masahiro, et al.
Publicado: (2022) -
Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus
por: Nakano, Tomohiro, et al.
Publicado: (2022) -
Mecom mutation related to radioulnar synostosis with amegakaryocytic thrombocytopenia reduces HSPCs in mice
por: Nagai, Koki, et al.
Publicado: (2023) -
Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis
por: Ozeki, Michio, et al.
Publicado: (2019) -
Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
por: Wada, Yoichi, et al.
Publicado: (2020)