407 Next generation sequencing approaches identify a novel Alu recombination-mediated large intronic deletion in CDH3 in a family with hypotrichosis with juvenile macular dystrophy (HJMD)
| Autor: | Leila Youssefian, Jouni Uitto, M. Sargazi, Hassan Vahidnezhad, Amir Hossein Saeidian, Soheila Sotoudeh, Sirous Zeinali |
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| Rok vydání: | 2019 |
| Předmět: | |
| Zdroj: | Journal of Investigative Dermatology. 139:S70 |
| ISSN: | 0022-202X |
| DOI: | 10.1016/j.jid.2019.03.483 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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