Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1
| dc.contributor.author | Hsu, Chao-Kai | |
| dc.contributor.author | Liu, Lu | |
| dc.contributor.author | Can, Pelin K. | |
| dc.contributor.author | Kocaturk, Emek | |
| dc.contributor.author | McMillan, James R. | |
| dc.contributor.author | Gungor, Sule | |
| dc.contributor.author | HÜRDOĞAN, Özge | |
| dc.contributor.author | Sargan, Aytul | |
| dc.contributor.author | Degirmentepe, Ece N. | |
| dc.contributor.author | Lee, John Y. W. | |
| dc.contributor.author | Simpson, Michael A. | |
| dc.contributor.author | McGrath, John A. | |
| dc.date.accessioned | 2022-02-18T10:39:57Z | |
| dc.date.available | 2022-02-18T10:39:57Z | |
| dc.date.issued | 2016 | |
| dc.identifier.citation | Hsu C., Liu L., Can P. K. , Kocaturk E., McMillan J. R. , Gungor S., HÜRDOĞAN Ö., Sargan A., Degirmentepe E. N. , Lee J. Y. W. , et al., "Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1", JOURNAL OF DERMATOLOGICAL SCIENCE, cilt.84, sa.2, ss.210-212, 2016 | |
| dc.identifier.issn | 0923-1811 | |
| dc.identifier.other | av_b19b3812-b629-4554-9f28-259c7a14b4a8 | |
| dc.identifier.other | vv_1032021 | |
| dc.identifier.uri | http://hdl.handle.net/20.500.12627/179674 | |
| dc.identifier.uri | https://doi.org/10.1016/j.jdermsci.2016.08.011 | |
| dc.language.iso | eng | |
| dc.subject | Dermatology | |
| dc.subject | Health Sciences | |
| dc.subject | Dermatoloji | |
| dc.subject | Dahili Tıp Bilimleri | |
| dc.subject | Sağlık Bilimleri | |
| dc.subject | Klinik Tıp (MED) | |
| dc.subject | Klinik Tıp | |
| dc.subject | DERMATOLOJİ | |
| dc.subject | Tıp | |
| dc.title | Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1 | |
| dc.type | Makale | |
| dc.relation.journal | JOURNAL OF DERMATOLOGICAL SCIENCE | |
| dc.contributor.department | University Of London , , | |
| dc.identifier.volume | 84 | |
| dc.identifier.issue | 2 | |
| dc.identifier.startpage | 210 | |
| dc.identifier.endpage | 212 | |
| dc.contributor.firstauthorID | 3384831 |
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