SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies

Germline mutations in the SAMD9 and SAMD9L genes, located in tandem on chromosome 7, are associated with a clinical spectrum of disorders including the MIRAGE syndrome, ataxia–pancytopenia syndrome and myelodysplasia and leukemia syndrome with monosomy 7 syndrome. Germline gain-of-function mutations...

Descripción completa

Detalles Bibliográficos
Autores principales: Davidsson, Josef, Puschmann, Andreas, Tedgård, Ulf, Bryder, David, Nilsson, Lars, Cammenga, Jörg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5940635/
https://www.ncbi.nlm.nih.gov/pubmed/29535429
http://dx.doi.org/10.1038/s41375-018-0074-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5940635/
https://www.ncbi.nlm.nih.gov/pubmed/29535429
http://dx.doi.org/10.1038/s41375-018-0074-4

Ejemplares similares