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Screening for mutation site on the type I neurofibromatosis gene in a family
PURPOSE: The purpose of the study was to determine the sites and types of mutations associated with type I neurofibromatosis (NF1) in the NF1 gene in a family with NF1 patients. METHODS: The blood samples obtained from this family (four patients and one normal healthy individual) were analyzed by pe...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer-Verlag
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3324681/ https://www.ncbi.nlm.nih.gov/pubmed/22207399 http://dx.doi.org/10.1007/s00381-011-1653-0 |