Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

John Y.W. Lee; Assem Farag; Amira Tawdy; Lu Liu; Magdalene Michael; Ellie Rashidghamat; Sophia Aristodemou; Chao Kai Hsu; Michael A. Simpson; Maddy Parsons; John A. McGrath

doi:10.1016/j.jdermsci.2017.11.012

Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

John Y.W. Lee, Assem Farag, Amira Tawdy, Lu Liu, Magdalene Michael, Ellie Rashidghamat, Sophia Aristodemou, Chao Kai Hsu, Michael A. Simpson, Maddy Parsons, John A. McGrath^*

^*Corresponding author for this work

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

8 Citations (Scopus)

Original language	English
Pages (from-to)	198-201
Journal	Journal of Dermatological Science
Volume	89
Issue number	2
Early online date	2 Dec 2017
DOIs	https://doi.org/10.1016/j.jdermsci.2017.11.012
Publication status	Published - Feb 2018

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10.1016/j.jdermsci.2017.11.012

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Lee, J. Y. W., Farag, A., Tawdy, A., Liu, L., Michael, M., Rashidghamat, E., Aristodemou, S., Hsu, C. K., Simpson, M. A., Parsons, M., & McGrath, J. A. (2018). Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility. Journal of Dermatological Science, 89(2), 198-201. https://doi.org/10.1016/j.jdermsci.2017.11.012

@article{2b0fc1d70f47489492ecf16db0e525c7,

title = "Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility",

author = "Lee, {John Y.W.} and Assem Farag and Amira Tawdy and Lu Liu and Magdalene Michael and Ellie Rashidghamat and Sophia Aristodemou and Hsu, {Chao Kai} and Simpson, {Michael A.} and Maddy Parsons and McGrath, {John A.}",

year = "2018",

month = feb,

doi = "10.1016/j.jdermsci.2017.11.012",

language = "English",

volume = "89",

pages = "198--201",

journal = "Journal of Dermatological Science",

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}

Lee, JYW, Farag, A, Tawdy, A, Liu, L, Michael, M , Rashidghamat, E, Aristodemou, S, Hsu, CK, Simpson, MA , Parsons, M & McGrath, JA 2018, 'Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility', Journal of Dermatological Science, vol. 89, no. 2, pp. 198-201. https://doi.org/10.1016/j.jdermsci.2017.11.012

TY - JOUR

T1 - Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

AU - Lee, John Y.W.

AU - Farag, Assem

AU - Tawdy, Amira

AU - Liu, Lu

AU - Michael, Magdalene

AU - Rashidghamat, Ellie

AU - Aristodemou, Sophia

AU - Hsu, Chao Kai

AU - Simpson, Michael A.

AU - Parsons, Maddy

AU - McGrath, John A.

PY - 2018/2

Y1 - 2018/2

UR - http://www.scopus.com/inward/record.url?scp=85037665556&partnerID=8YFLogxK

U2 - 10.1016/j.jdermsci.2017.11.012

DO - 10.1016/j.jdermsci.2017.11.012

M3 - Letter

AN - SCOPUS:85037665556

SN - 0923-1811

VL - 89

SP - 198

EP - 201

JO - Journal of Dermatological Science

JF - Journal of Dermatological Science

IS - 2

ER -

Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

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