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

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, t...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9795651/
https://www.ncbi.nlm.nih.gov/pubmed/36578049
http://dx.doi.org/10.1186/s13023-022-02605-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9795651/
https://www.ncbi.nlm.nih.gov/pubmed/36578049
http://dx.doi.org/10.1186/s13023-022-02605-1

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