Xufeng Du
Nanjing Medical University
14 Papers
36 Citations
Xufeng Du is an academic researcher from Nanjing Medical University. The author has contributed to research in topics: Mutation & Gene. The author has an hindex of 5, co-authored 12 publications.
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Papers
Clinical and Molecular Characterization of NF1 Patients: Single-Center Experience of 32 Patients From China.
Lude Zhu,Yunfeng Zhang,Hanxing Tong,Min-Hua Shao,Yong Gu,Xufeng Du,Peiru Wang,Lei Shi,Linglin Zhang,Mingye Bi,Xiuli Wang,Guolong Zhang +11 more
TL;DR: A sensitive, feasible, and comparatively economical protocol is suggested to be effective for the detection of NF1 mutations using blood samples, which was more feasible and useful than cDNA sequencing.
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Extramammary Paget's disease mimicking acantholytic squamous cell carcinoma in situ: a case report.
TL;DR: Paget's cells with pale‐staining cytoplasm in the epidermis and cases with distinguished acantholysis but lacking characteristic Paget’s cells were rarely reported in the literature.
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Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene.
TL;DR: A three-generation family exhibiting phenotypic variability with a single germline ADAR1 mutation suggests that chilblain might aggravate the clinical phenotypes of DSH and in silico analysis proves that all the mutations reported here are pathogenic.
Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population.
TL;DR: The findings expand the range of known ATP2C1 sequence variants in this disease, and it is of note that some reported "novel" mutations were in fact found to be recurrent.
Interstitial granulomatous drug reaction to a Chinese herb extract
TL;DR: This study presents a small number of cases of IGDR reported in the literature, mostly induced by Western medicines, such as diuretics, antihistamines, and anti-freeze, which are known to cause granulomatous drug reaction.
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