A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family

Journal of Clinical Neuroscience

Volumn 31, Issue , 2016, Pages 182-184

  Banerjee, Santasree ^a   Dai, Yi ^b   Liang, Shengran ^a   Chen, Huishuang ^a   Wang, Yanyan ^a   Tang, Lihui ^a   Wu, Jing ^a   Huang, Hui ^a  

^a BGI SHENZHEN   (China)

^b PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

Mutational screening; Neurofibromatosis type1; Next generation sequencing; NF1 gene; Novel mutation

Indexed keywords

NEUROFIBROMIN; STOP CODON;

ADOLESCENT; ADULT; ARTICLE; ASTROCYTOMA; CAFE AU LAIT SPOT; CASE REPORT; CHINESE; FEMALE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HEADACHE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MIDDLE AGED; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NF1 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPIC VARIATION; PRIORITY JOURNAL; VOMITING; CASE CONTROL STUDY; GENETICS; NERVE SHEATH NEOPLASMS; NEUROFIBROMATOSIS 1; PEDIGREE; PHENOTYPE; STOP CODON; SYNDROME;

ADULT; ASTROCYTOMA; CASE-CONTROL STUDIES; CODON, NONSENSE; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MIDDLE AGED; NERVE SHEATH NEOPLASMS; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 84973911510     PISSN: 09675868     EISSN: 15322653     Source Type: Journal    
DOI: 10.1016/j.jocn.2015.12.034     Document Type: Article

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