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796 Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) associated with different subtypes of epidermolysis bullosa

Authors :
H. Vahidnezhad
Sirous Zeinali
Amir Hossein Saeidian
Jouni Uitto
Soheila Sotoudeh
Leila Youssefian
Ariana Kariminejad
Patricia A. Lovell
Lin Liu
Andrew Touati
John A. McGrath
Alyson Guy
Source :
Journal of Investigative Dermatology. 138:S135
Publication Year :
2018
Publisher :
Elsevier BV, 2018.

Details

ISSN :
0022202X
Volume :
138
Database :
OpenAIRE
Journal :
Journal of Investigative Dermatology
Accession number :
edsair.doi...........166304dc4227329b26a65d3dd2e0a889
Full Text :
https://doi.org/10.1016/j.jid.2018.03.806