Detection and Characterization of NF1 Microdeletions by Custom High Resolution Array CGH

In 5% to 10% of cases, neurofibromatosis type 1 is caused by microdeletions scattered across the entire NF1 gene and various neighboring genes. The phenotype appears to be more severe in patients with NF1 microdeletions than in patients with NF1 single point mutations. We have developed a new method...

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Detalhes bibliográficos
Main Authors: Pasmant, Eric, Sabbagh, Audrey, Masliah-Planchon, Julien, Haddad, Véronique, Hamel, Marie-José, Laurendeau, Ingrid, Soulier, Jean, Parfait, Béatrice, Wolkenstein, Pierre, Bièche, Ivan, Vidaud, Michel, Vidaud, Dominique
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2009
Assuntos:
Technical Advances
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2765750/
https://ncbi.nlm.nih.gov/pubmed/19767589
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2009.090064
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