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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Genome Var
Prif Awduron: Bianchi, Marika, Saletti, Veronica, Micheli, Roberto, Esposito, Silvia, Molinaro, Anna, Gagliardi, Stella, Orcesi, Simona, Cereda, Cristina
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2015
Pynciau:
Data Report
Mynediad Ar-lein: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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