Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population-Reference-Cited by-同舟云学术

Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population

Published:2015-06-09 Issue:1 Volume:5 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Zhang Jia,Tong Hanxing,Fu Xi’an,Zhang Yong,Liu Jiangbo,Cheng Ruhong,Liang Jianying,Peng Jie,Sun Zhonghui,Liu Hong,Zhang Furen,Lu Weiqi,Li Ming,Yao Zhirong

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep11291.pdf

Reference35 articles.

1. Carey, J. C. et al. The Genetic Aspects of Neurofibromatosisa. Ann Ny Acad Sci 486, 45–56 (1986).

2. DeBella, K., Szudek, J. & Friedman, J. M. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 105, 608–614 (2000).

3. Gutmann, D. H. et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. Jama 278, 51–57 (1997).

4. Cichowski, K. & Jacks, T. NF1 tumor suppressor gene function: narrowing the GAP. Cell 104, 593–604 (2001).

5. Fahsold, R. et al. Minor Lesion Mutational Spectrum of the Entire NF1 Gene Does Not Explain Its High Mutability but Points to a Functional Domain Upstream of the GAP-Related Domain. Am J Hum Genet 66, 790–818 (2000).

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