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Clinical manifestations and neurofibromatosis type 1 gene mutations of 25 patients with neurofibromatosis type 1 from 10 Chinese pedigrees

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收录情况： ◇ SCIE

作者：

机构： [1]Department of Dermatology, Xuanwu Hospital, Capital Medical University, Changchun, Xicheng, Beijing, China

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关键词： Chinese pedigrees clinical manifestations neurofibromatosis type 1 neurofibromatosis type 1 gene mutations

摘要：

This study enrolled 25 patients with neurofibromatosis type 1 (NF1) from 10 Chinese pedigrees. Sanger sequencing analysis and multiplex ligation-dependent probe amplification analysis were used to detect mutations and large fragment losses of the NF1 gene. This study identified 10 NF1 mutations, which comprised six novel and four recurrent mutations. Majority of the mutations can lead to termination codon production, which results in the synthesis of the truncated gene product neurofibromin. © 2020 Dermatologica Sinica | Published by Wolters Kluwer - Medknow.

语种：

WOS：

中科院(CAS)分区：

出版当年[2019]版：

大类 | 4 区医学

小类 | 4 区皮肤病学

最新[2023]版：

大类 | 4 区医学

小类 | 4 区皮肤病学

JCR分区：

出版当年[2018]版：

Q4 DERMATOLOGY

最新[2023]版：

Q2 DERMATOLOGY

影响因子： 2.3 最新[2023版] 1.2 最新五年平均 0.808 出版当年[2018版] 0.807 出版当年五年平均 1.05 出版前一年[2017版] 0.921 出版后一年[2019版]

第一作者：

第一作者机构： [1]Department of Dermatology, Xuanwu Hospital, Capital Medical University, Changchun, Xicheng, Beijing, China

通讯作者：

通讯机构： [*1]Department of Dermatology, Xuanwu Hospital, Capital Medical University,No.45, Changchun St, Xicheng District, Beijing 100053, China.

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