A Postzygotic ATP2A2 Novel Mutation Identified by Next-generation Sequencing in Mosaic Darier Disease
| Autor: | Vittoria Proto, Cristina Pedicelli, Daniele Castiglia, Cinzia Mazzanti, Liliana Guerra, Angelo Giuseppe Condorelli |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Heterozygote
Biopsy DNA Mutational Analysis Dermatology DNA sequencing Sarcoplasmic Reticulum Calcium-Transporting ATPases 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Predictive Value of Tests Darier Disease ATP2A2 Humans Medicine Genetic Predisposition to Disease Skin pathology Skin Genetics Mosaicism business.industry High-Throughput Nucleotide Sequencing General Medicine Middle Aged Phenotype 030220 oncology & carcinogenesis RL1-803 Mutation Mutation (genetic algorithm) Female business Novel mutation |
| Zdroj: | Acta Dermato-Venereologica, Vol 99, Iss 1, Pp 115-116 (2018) |
| ISSN: | 1651-2057 0001-5555 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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