Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1

Neurofibromatosis type 1 (NF1), a neuroectodermal disorder, is caused by germline mutations in the NF1 gene. NF1 affects approximately 1/3,000 individuals worldwide, with about 50% of cases representing de novo mutations. Although the NF1 gene was identified in 1990, the underlying gene mutations st...

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Detalles Bibliográficos
Autores principales: Hamby, Stephen E, Reviriego, Pablo, Cooper, David N, Upadhyaya, Meena, Chuzhanova, Nadia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750751/
https://www.ncbi.nlm.nih.gov/pubmed/23947441
http://dx.doi.org/10.1186/1479-7364-7-18

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