Legius Syndrome: two novel mutations in the SPRED1 gene

The SPRED1 gene encodes a protein involved in the Ras/MAPK (mitogen-activated protein kinase) signaling pathway. Mutations in SPRED1 have been reported to cause Legius Syndrome, a rare developmental disorder that shares some clinical features with Neurofibromatosis-1. Direct sequencing was used to d...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Hum Genome Var
Autors principals: Bianchi, Marika, Saletti, Veronica, Micheli, Roberto, Esposito, Silvia, Molinaro, Anna, Gagliardi, Stella, Orcesi, Simona, Cereda, Cristina
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
Matèries:
Data Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785569/
https://ncbi.nlm.nih.gov/pubmed/27081556
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.51
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars