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

Research output: Contribution to journalLetter

3 Citations (Scopus)
Original languageEnglish
Pages (from-to)198-201
Number of pages4
JournalJournal of Dermatological Science
Volume89
Issue number2
DOIs
Publication statusPublished - 2018 Feb

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Desmoglein 1
gamma Catenin
RNA Splice Sites
Biopsy
Skin

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology

Cite this

Lee, John Y.W. ; Farag, Assem ; Tawdy, Amira ; Liu, Lu ; Michael, Magdalene ; Rashidghamat, Ellie ; Aristodemou, Sophia ; Hsu, Chao Kai ; Simpson, Michael A. ; Parsons, Maddy ; McGrath, John A. / Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility. In: Journal of Dermatological Science. 2018 ; Vol. 89, No. 2. pp. 198-201.
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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 = "2",
doi = "10.1016/j.jdermsci.2017.11.012",
language = "English",
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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

Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility. / Lee, John Y.W.; Farag, Assem; Tawdy, Amira; Liu, Lu; Michael, Magdalene; Rashidghamat, Ellie; Aristodemou, Sophia; Hsu, Chao Kai; Simpson, Michael A.; Parsons, Maddy; McGrath, John A.

In: Journal of Dermatological Science, Vol. 89, No. 2, 02.2018, p. 198-201.

Research output: Contribution to journalLetter

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

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U2 - 10.1016/j.jdermsci.2017.11.012

DO - 10.1016/j.jdermsci.2017.11.012

M3 - Letter

C2 - 29229434

AN - SCOPUS:85037665556

VL - 89

SP - 198

EP - 201

JO - Journal of Dermatological Science

JF - Journal of Dermatological Science

SN - 0923-1811

IS - 2

ER -