Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.

doi:10.1111/jdv.18692

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Article

Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Feb 2023

Chen Fuying, Wei Ruoqu, Deng Dan, Zhang Xue, Cao Yu, Pan Chaolan, Wang Yumeng, Cao Qiaoyu, Wang Jianbo, Zeng Ming, Huang Linting, Gu Yan, Yao Zhirong, Li Ming

Abstract excerpt

BACKGROUND: Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic blistering disorders. OBJECTIVES: The objective was to analyse the genotype-phenotype correlation in EB among Chinese individuals. METHODS: Next-generation sequencing and Sanger sequencing were performed to genetically confirm clinically diagnosed EB. Reverse transcription-PCR and splice-site analysis were used to...

Topics

Female
Humans
Pregnancy
Collagen Type VII
Epidermolysis Bullosa
Epidermolysis Bullosa Dystrophica
Genotype
Mutation
Phenotype
East Asian People

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Identifiers

PMID: 36287101
DOI: 10.1111/jdv.18692

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