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Your search keyword '"Simpson, Michael"' showing total 4 results
Start Over Author "Simpson, Michael" Journal journal of dermatological science Publisher elsevier b.v.
4 results on '"Simpson, Michael"'

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

Author

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

Subjects
*GENETIC mutation, *SKIN physiology, *KERATINOCYTES, *CELL junctions, *IMMUNOHISTOCHEMISTRY, *TRANSMISSION electron microscopy
Published
2018
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2. Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.

Author

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., and McGrath, John A.

Subjects
*SKIN diseases, *ECTODERMAL dysplasia, *GENETIC mutation, *REVERSE transcriptase polymerase chain reaction, *CLINICAL trials
Published
2016
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