Literature DB >> 28164893

A novel frameshift mutation of the NF1 gene in a Chinese pedigree with neurofibromatosis type 1.

Xuefei Lin1, Hui Chen1, Wei Zhu1, Shi Lian1.   

Abstract

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Year:  2017        PMID： 28164893     DOI： 10.4103/0378-6323.198457

Source DB:  PubMed          Journal:  Indian J Dermatol Venereol Leprol        ISSN： 0378-6323            Impact factor:   2.545


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  3 in total

1.  A novel mutation of the NF1 gene in a Chinese family with neurofibromatosis type 1.

Authors:  Qi He; Jingjing Jiang; Jiao Yang; Junjie Zeng; Huan Zhang; Zhengzhong Zhang
Journal:  Am J Transl Res       Date:  2022-07-15       Impact factor: 3.940

2.  Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1.

Authors:  Bin Mao; Siyu Chen; Xin Chen; Xiumei Yu; Xiaojia Zhai; Tao Yang; Lulu Li; Zheng Wang; Xiuli Zhao; Xue Zhang
Journal:  BMC Med Genet       Date:  2018-06-18       Impact factor: 2.103

3.  Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Authors:  Giulia Melloni; Marica Eoli; Claudia Cesaretti; Donatella Bianchessi; Maria Cristina Ibba; Silvia Esposito; Giulietta Scuvera; Guido Morcaldi; Roberto Micheli; Elena Piozzi; Sabrina Avignone; Luisa Chiapparini; Chiara Pantaleoni; Federica Natacci; Gaetano Finocchiaro; Veronica Saletti
Journal:  Cancers (Basel)       Date:  2019-11-21       Impact factor: 6.639
  3 in total

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