Double Inactivation of NF1 in Tibial Pseudarthrosis

Osseous abnormalities, including long-bone dysplasia with pseudarthrosis (PA), are associated with neurofibromatosis type 1 (NF1). Prospectively acquired tissue from the PA site of two individuals with NF1 was used for immunohistochemical characterization and genotype analysis of the NF1 locus. Typi...

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Autores principales: Stevenson, David A., Zhou, Holly, Ashrafi, Shadi, Messiaen, Ludwine M., Carey, John C., D’Astous, Jacques L., Santora, Stephen D., Viskochil, David H.
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2006
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1474128/
https://ncbi.nlm.nih.gov/pubmed/16773574
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