A de novo COL17A1 splicesite mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa

Ping Chen Hou; Wei Ting Tu; Peng Chieh Chen; Bryan Edgar K. Guevara; Yu Fen Yen; Hsin Yu Huang; Julia Yu Yun Lee; Ming Jer Tang; Pao Lin Kuo; John A. McGrath; Chao Kai Hsu

doi:10.1684/ejd.2021.4011

A de novo COL17A1 splicesite mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa

Ping Chen Hou, Wei Ting Tu, Peng Chieh Chen, Bryan Edgar K. Guevara, Yu Fen Yen, Hsin Yu Huang, Julia Yu Yun Lee, Ming Jer Tang, Pao Lin Kuo, John A. McGrath, Chao Kai Hsu

Research output: Contribution to journal › Letter › peer-review

Original language	English
Pages (from-to)	267-269
Number of pages	3
Journal	European Journal of Dermatology
Volume	31
Issue number	2
DOIs	https://doi.org/10.1684/ejd.2021.4011
Publication status	Published - 2021 Mar

All Science Journal Classification (ASJC) codes

Dermatology

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10.1684/ejd.2021.4011

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@article{7bd19d49082c455c8a13027f87797449,

title = "A de novo COL17A1 splicesite mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa",

author = "Hou, {Ping Chen} and Tu, {Wei Ting} and Chen, {Peng Chieh} and Guevara, {Bryan Edgar K.} and Yen, {Yu Fen} and Huang, {Hsin Yu} and Lee, {Julia Yu Yun} and Tang, {Ming Jer} and Kuo, {Pao Lin} and McGrath, {John A.} and Hsu, {Chao Kai}",

note = "Funding Information: Financial support: this work was financially supported by National Cheng Kung University Hospital (No. NCKUH-10804015), the Taiwanese Ministry of Health and Welfare (No. B185-08, rare disease prevention and control work and research projects), National Cheng Kung University, College of Medicine (No. NCKUMCS2018-037) and the International Center for Wound Repair and Regeneration at National Cheng Kung University in Taiwan. Conflicts of interest: none. ",

year = "2021",

month = mar,

doi = "10.1684/ejd.2021.4011",

language = "English",

volume = "31",

pages = "267--269",

journal = "European Journal of Dermatology",

issn = "1167-1122",

publisher = "John Libbey Eurotext",

number = "2",

}

TY - JOUR

T1 - A de novo COL17A1 splicesite mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa

AU - Hou, Ping Chen

AU - Tu, Wei Ting

AU - Chen, Peng Chieh

AU - Guevara, Bryan Edgar K.

AU - Yen, Yu Fen

AU - Huang, Hsin Yu

AU - Lee, Julia Yu Yun

AU - Tang, Ming Jer

AU - Kuo, Pao Lin

AU - McGrath, John A.

AU - Hsu, Chao Kai

N1 - Funding Information: Financial support: this work was financially supported by National Cheng Kung University Hospital (No. NCKUH-10804015), the Taiwanese Ministry of Health and Welfare (No. B185-08, rare disease prevention and control work and research projects), National Cheng Kung University, College of Medicine (No. NCKUMCS2018-037) and the International Center for Wound Repair and Regeneration at National Cheng Kung University in Taiwan. Conflicts of interest: none.

PY - 2021/3

Y1 - 2021/3

UR - http://www.scopus.com/inward/record.url?scp=85106559327&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85106559327&partnerID=8YFLogxK

U2 - 10.1684/ejd.2021.4011

DO - 10.1684/ejd.2021.4011

M3 - Letter

C2 - 34001479

AN - SCOPUS:85106559327

SN - 1167-1122

VL - 31

SP - 267

EP - 269

JO - European Journal of Dermatology

JF - European Journal of Dermatology

IS - 2

ER -

A de novo COL17A1 splicesite mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa

All Science Journal Classification (ASJC) codes

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