A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family-Reference-Cited by-同舟云学术

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

Published:2016-09 Issue: Volume:31 Page:182-184
ISSN:0967-5868
Container-title:Journal of Clinical Neuroscience
language:en
Short-container-title:Journal of Clinical Neuroscience

Author:

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

Publisher

Elsevier BV

Subject

Physiology (medical),Neurology (clinical),Neurology,General Medicine,Surgery

Reference10 articles.

1. Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing;Xu;Int J Mol Med,2014

2. Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?;Pasmant;Eur J Hum Genet,2015

3. Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene;Hsiao;Hum Mutat,2014

4. A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1;Cai;Genet Mol Res,2014

5. Neurofibromatosis-1: a maximum likelihood estimation of mutation rate;Clementi;Hum Genet,1990

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Comprehensive Overview of NF1 Mutations in Iranian Patients;NeuroMolecular Medicine;2024-07-02

2. The genetic spectrum ofNF1variants in 10 unrelated Chinese families with neurofibromatosis type 1;Neurosciences;2024-07

3. The gene diagnosis of neurofibromatosis type I with headache as the main symptom: A case report and review of the literature;Frontiers in Neurology;2022-08-01

4. Deletion of the whole NF1 gene in a three-generation family with neurofibromatosis type 1;Neurological Sciences;2021-06-05

5. A novel mutation in NF1 gene of patient with Neurofibromatosis type 1: A case report and functional study;Molecular Genetics & Genomic Medicine;2021-03-25

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