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...

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Bibliografiske detaljer
Udgivet i:Hum Genome Var
Main Authors: Bianchi, Marika, Saletti, Veronica, Micheli, Roberto, Esposito, Silvia, Molinaro, Anna, Gagliardi, Stella, Orcesi, Simona, Cereda, Cristina
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2015
Fag:
Data Report
Online adgang: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
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