一名早发性结节病中国儿童中NOD2基因新错义突变的鉴定。 - Suppr

Identification of a novel missense mutation in the NOD2 gene in a Chinese child with early-onset sarcoidosis.

作者信息

Wang Xiaopo, Zhang Xiaofeng, Zhang Wei, Sun Jianfang

机构信息

Department of Pathology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.

Department of Dermatology, Institute of Plastic Surgery, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

出版信息

Indian J Dermatol Venereol Leprol. 2018 Sep-Oct;84(5):645. doi: 10.4103/ijdvl.IJDVL_645_16.

DOI:10.4103/ijdvl.IJDVL_645_16

PMID:29067935

Abstract

摘要

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Identification of a novel missense mutation in the NOD2 gene in a Chinese child with early-onset sarcoidosis.

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Identification of a novel missense mutation in the NOD2 gene in a Chinese child with early-onset sarcoidosis.

作者信息

Wang Xiaopo, Zhang Xiaofeng, Zhang Wei, Sun Jianfang

机构信息

Department of Pathology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.

Department of Dermatology, Institute of Plastic Surgery, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

出版信息

Indian J Dermatol Venereol Leprol. 2018 Sep-Oct;84(5):645. doi: 10.4103/ijdvl.IJDVL_645_16.

DOI:10.4103/ijdvl.IJDVL_645_16

PMID:29067935

Abstract

摘要

相似文献

Identification of a novel missense mutation in the NOD2 gene in a Chinese child with early-onset sarcoidosis.

Indian J Dermatol Venereol Leprol. 2018 Sep-Oct;84(5):645. doi: 10.4103/ijdvl.IJDVL_645_16.

Blau syndrome with pulmonary nodule in a child.

Australas J Dermatol. 2021 May;62(2):217-220. doi: 10.1111/ajd.13551. Epub 2021 Mar 19.

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Eur J Dermatol. 2015 Nov-Dec;25(6):620-2. doi: 10.1684/ejd.2015.2712.

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Innate Immun. 2017 Oct;23(7):578-583. doi: 10.1177/1753425917727063. Epub 2017 Aug 24.

Blau Syndrome: A Systemic Granulomatous Disease of Cutaneous Onset and Phenotypic Complexity.

Pediatr Dermatol. 2017 Mar;34(2):216-218. doi: 10.1111/pde.13021. Epub 2016 Nov 22.

A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?

Mod Rheumatol. 2013 Jul;23(4):837-9. doi: 10.1007/s10165-012-0720-z. Epub 2012 Jul 21.

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Int J Rheum Dis. 2023 Oct;26(10):2080-2084. doi: 10.1111/1756-185X.14716. Epub 2023 May 29.

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Identification of a novel missense mutation in the NOD2 gene in a Chinese child with early-onset sarcoidosis.

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Identification of a novel missense mutation in the NOD2 gene in a Chinese child with early-onset sarcoidosis.

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