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| 國立成功大學 |
2016-11 |
Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1
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Hsu, Chao-Kai; Liu, Lu; Can, Pelin K.; Kocaturk, Emek; McMillan, James R.; Gungor, Sule; Hurdogan, Ozge; Sargan, Aytul; Degirmentepe, Ece N.; Lee, John Y. W.; Simpson, Michael A.; McGrath, John A. |
| 國立成功大學 |
2016 |
Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function
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Takeichi, Takuya;Sugiura, Kazumitsu;Hsu, Chao-Kai;Nomura, Toshifumi;Takama, Hiroyuki;Simpson, Michael A.;Shimizu, Hiroshi;McGrath, John A.;Akiyama, Masashi |
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