Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1

Chao Kai Hsu, Lu Liu, Pelin K. Can, Emek Kocatürk, James R. McMillan, Şule Güngör, Özge Hürdoğan, Aytul Sargan, Ece N. Degirmentepe, John Y.W. Lee, Michael A. Simpson, John A. McGrath

研究成果: Letter

原文English
頁(從 - 到)210-212
頁數3
期刊Journal of Dermatological Science
84
發行號2
DOIs
出版狀態Published - 2016 十一月 1

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology

引用此文

Hsu, Chao Kai ; Liu, Lu ; Can, Pelin K. ; Kocatürk, Emek ; McMillan, James R. ; Güngör, Şule ; Hürdoğan, Özge ; Sargan, Aytul ; Degirmentepe, Ece N. ; Lee, John Y.W. ; Simpson, Michael A. ; McGrath, John A. / Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. 於: Journal of Dermatological Science. 2016 ; 卷 84, 編號 2. 頁 210-212.
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author = "Hsu, {Chao Kai} and Lu Liu and Can, {Pelin K.} and Emek Kocat{\"u}rk and McMillan, {James R.} and Şule G{\"u}ng{\"o}r and {\"O}zge H{\"u}rdoğan and Aytul Sargan and Degirmentepe, {Ece N.} and Lee, {John Y.W.} and Simpson, {Michael A.} and McGrath, {John A.}",
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Hsu, CK, Liu, L, Can, PK, Kocatürk, E, McMillan, JR, Güngör, Ş, Hürdoğan, Ö, Sargan, A, Degirmentepe, EN, Lee, JYW, Simpson, MA & McGrath, JA 2016, 'Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1', Journal of Dermatological Science, 卷 84, 編號 2, 頁 210-212. https://doi.org/10.1016/j.jdermsci.2016.08.011

Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. / Hsu, Chao Kai; Liu, Lu; Can, Pelin K.; Kocatürk, Emek; McMillan, James R.; Güngör, Şule; Hürdoğan, Özge; Sargan, Aytul; Degirmentepe, Ece N.; Lee, John Y.W.; Simpson, Michael A.; McGrath, John A.

於: Journal of Dermatological Science, 卷 84, 編號 2, 01.11.2016, p. 210-212.

研究成果: Letter

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T1 - Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1

AU - Hsu, Chao Kai

AU - Liu, Lu

AU - Can, Pelin K.

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AU - McMillan, James R.

AU - Güngör, Şule

AU - Hürdoğan, Özge

AU - Sargan, Aytul

AU - Degirmentepe, Ece N.

AU - Lee, John Y.W.

AU - Simpson, Michael A.

AU - McGrath, John A.

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