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Piebaldism resulting from a novel deletion mutation of KIT gene in a five-generation Chinese family.

作者信息

Chen Y J, Diao P, Wan R Y, Li L

机构信息

Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu, China.

出版信息

Clin Exp Dermatol. 2022 Jan;47(1):232-234. doi: 10.1111/ced.14834. Epub 2021 Aug 10.

DOI:10.1111/ced.14834
PMID:34374464
Abstract
摘要

相似文献

1
Piebaldism resulting from a novel deletion mutation of KIT gene in a five-generation Chinese family.
Clin Exp Dermatol. 2022 Jan;47(1):232-234. doi: 10.1111/ced.14834. Epub 2021 Aug 10.
2
[Identification of a novel KIT mutation in a Chinese family affected with piebaldism].
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A novel KIT frame-shift mutation in a large Chinese family with variably severe phenotypes of piebaldism.一个患有斑驳病严重程度各异表型的中国大家庭中发现的一种新的KIT移码突变。
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[Analysis of KIT mutations in five patients from two Han Chinese pedigrees affected with Piebaldism].[两个患斑驳病的汉族家系中五例患者的KIT基因突变分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):366-370. doi: 10.3760/cma.j.issn.1003-9406.2018.03.013.
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[Identification of novel KIT gene mutations in two Chinese families with piebaldism].[两个患有斑驳病的中国家系中新型KIT基因突变的鉴定]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):385-8. doi: 10.3760/cma.j.issn.1003-9406.2013.04.001.
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A novel KIT missense mutation in one Chinese family with piebaldism.一个患有斑驳病的中国家庭中发现一种新的KIT错义突变。
Arch Dermatol Res. 2009 Jun;301(5):387-9. doi: 10.1007/s00403-009-0955-5. Epub 2009 May 9.
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[A novel KIT gene mutation from a family with piebaldism in the southern part of China].[中国南方一个斑驳病家族中的一种新的KIT基因突变]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Dec;22(6):668-70.
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A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family.一个新的 KIT 剪接突变导致一个中国家庭的斑驳病和赤褐色头发颜色。
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A novel mutation of KIT gene results in piebaldism in a Chinese family.KIT基因的一种新突变导致一个中国家庭患斑驳病。
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1
Piebaldism with café-au-lait macules resulting from a novel mutation of KIT gene in a three-generation Chinese family.一个三代表亲中国家族中 KIT 基因突变导致的斑驳病合并咖啡斑
Skin Res Technol. 2023 Jun;29(6):e13352. doi: 10.1111/srt.13352.