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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...

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Detalles Bibliográficos
Autores principales: Lv, Ming, Zhao, Wenhua, Yan, Lin, Chen, Liang, Cui, Kai, Gao, Jie, Yu, Fachang, Li, Sheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2011
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