Cargando…
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: | 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 |
Ejemplares similares
-
Mutation-Directed Therapeutics for Neurofibromatosis Type I
por: Leier, Andre, et al.
Publicado: (2020) -
Piebaldism with Neurofibromatosis Type I: A Familial Case
por: Park, Sang-Yeon, et al.
Publicado: (2014) -
Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families
por: Sharifi, Shahrashoub, et al.
Publicado: (2021) -
Undifferentiated embryonal sarcoma of the liver in a child: A case report and review of the literature
por: GAO, JIE, et al.
Publicado: (2013) -
Spinal neurofibromatosis with NF1 mutation in a classic neurofibromatosis type 1 family: A case report and literature review
por: Ning, Zeqian, et al.
Publicado: (2019)