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

Wei-Ting TuPing-Chen HouPeng-Chieh ChenWan-Rung ChenHsin-Yu HuangJing-Yu WangYi-Ting HuangYi-Huei WuChun-Lin SuYen-An TangHiroaki IwataKen NatsugaSheau-Chiou ChaoH Sunny SunMing-Jer TangJulia Yu-Yun LeeJohn A McGrathChao-Kai Hsu

Published in: Orphanet journal of rare diseases (2022)

The distinct clinical presentation and molecular pathology of EB in Taiwan expand our understanding of this disorder. WES was an effective first-line diagnostic tool for identifying EB-associated variants. RNA sequencing complemented WES when multiple potentially pathogenic splice-site mutations were found.

Keyphrases

single cell
end stage renal disease
ejection fraction
chronic kidney disease
prognostic factors
copy number
gene expression
dna methylation
genome wide