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Article

Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.

Orphanet journal of rare diseases - 28 Dec 2022

Tu Wei-Ting, Hou Ping-Chen, Chen Peng-Chieh, Chen Wan-Rung, Huang Hsin-Yu, Wang Jing-Yu, Huang Yi-Ting, Wu Yi-Huei, Su Chun-Lin, Tang Yen-An, Iwata Hiroaki, Natsuga Ken, Chao Sheau-Chiou, Sun H Sunny, Tang Ming-Jer, Lee Julia Yu-Yun, McGrath John A, Hsu Chao-Kai

Abstract excerpt

BACKGROUND: Epidermolysis bullosa (EB) is a heterogeneous group of hereditary skin diseases characterized by skin fragility. Primary data on Taiwanese population remain scarce. METHODS: We gathered clinical information from EB patients at National Cheng Kung University Hospital from January, 2012, to June, 2021. Diagnostic tests including transmission electron microscopy, immunofluorescence studies, and...

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Identifiers

PMID: 36578049
DOI: 10.1186/s13023-022-02605-1
PMCID: PMC9795651

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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