Application of nanopore sequencing in identifying null mutations and intragenic copy number variations (CNVs) in FLG.

Autor: Lin YC; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan., Chang YH; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Education Center, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Chiu FP; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Department of Dermatology, Townsville University Hospital, Douglas, Queensland, Australia., Akiyama M; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan., Hsu CK; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan. Electronic address: kylehsu@mail.ncku.edu.tw.
Jazyk: angličtina
Zdroj: Journal of dermatological science [J Dermatol Sci] 2022 Oct; Vol. 108 (1), pp. 48-50. Date of Electronic Publication: 2022 Sep 28.
DOI: 10.1016/j.jdermsci.2022.09.004
Abstrakt: Competing Interests: Conflicts of interest The authors have no conflict of interest to declare.
Databáze: MEDLINE