Literature DB >> 28230002

A Novel Frameshift Mutation in Neurofibromin 1 Gene in a Chinese Family with Neurofibromatosis Type 1.

Ying-Ying Dong1, Yan-Hong Zhang1, Hong-Wen Li1, Lu-Zhu Chen1, Ting-Mei Wang1, Wei Hu1, Man Hu1, Qiu-Yun She1, Dong-Xian Liu1, Yun-Hua Deng1.   

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Year:  2017        PMID： 28230002      PMCID： PMC5339944          DOI： 10.4103/0366-6999.200538

Source DB:  PubMed          Journal:  Chin Med J (Engl)        ISSN： 0366-6999            Impact factor:   2.628


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  5 in total

Review 1.  A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor.

Authors:  Nancy Ratner; Shyra J Miller
Journal:  Nat Rev Cancer       Date:  2015-04-16       Impact factor: 60.716

2.  Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

Authors:  Ming-Jen Lee; Yi-Ning Su; Huey-Ling You; Shinn-Chong Chiou; Li-Chu Lin; Chih-Chao Yang; Wang-Chao Lee; Wu-Liang Hwu; Fon-Jou Hsieh; Dennis A Stephenson; Chia-Li Yu
Journal:  Hum Mutat       Date:  2006-08       Impact factor: 4.878

Review 3.  Advances in Molecular Diagnosis of Neurofibromatosis Type 1.

Authors:  Ben Shofty; Shlomi Constantini; Shay Ben-Shachar
Journal:  Semin Pediatr Neurol       Date:  2015-10-28       Impact factor: 1.636

4.  Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.

Authors:  E Ars; H Kruyer; M Morell; E Pros; E Serra; A Ravella; X Estivill; C Lázaro
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

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

Authors:  Jia Zhang; Hanxing Tong; Xi'an Fu; Yong Zhang; Jiangbo Liu; Ruhong Cheng; Jianying Liang; Jie Peng; Zhonghui Sun; Hong Liu; Furen Zhang; Weiqi Lu; Ming Li; Zhirong Yao
Journal:  Sci Rep       Date:  2015-06-09       Impact factor: 4.379
  5 in total

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