A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

Neurofibromatosis type 1 (NF1) is a hereditary disorder caused by mutations in the NF1 gene. Detecting mutation in NF1 is hindered by the gene's large size, the lack of mutation hotspots, the presence of pseudogenes, and the wide variety of possible lesions. We developed a method for detecting...

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Dades bibliogràfiques
Autors principals: Carmen Valero, María, Martín, Yolanda, Hernández-Imaz, Elisabete, Marina Hernández, Alba, Meleán, Germán, María Valero, Ana, Javier Rodríguez-Álvarez, Francisco, Tellería, Dolores, Hernández-Chico, Concepción
Format: Artigo
Idioma:Inglês
Publicat: American Society for Investigative Pathology 2011
Matèries:
Technical Advance
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3128626/
https://ncbi.nlm.nih.gov/pubmed/21354044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2010.09.002
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