De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis
| Autor: | Bungo Ohyama, Sachiko Sakaguchi, Takashi Hashimoto, W.H. Irwin McLean, Aileen Sandilands, Shunpei Fukuda, Shinichiro Yasumoto, Takahiro Hamada |
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| Rok vydání: | 2007 |
| Předmět: |
Male
medicine.medical_specialty Dermatology Filaggrin Proteins Ichthyosis Vulgaris Biochemistry Dermatitis Atopic 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Intermediate Filament Proteins Japan medicine Humans Point Mutation Child Molecular Biology 030304 developmental biology Family Health 0303 health sciences business.industry Cell Biology Atopic dermatitis medicine.disease Child Preschool Mutation (genetic algorithm) Female business Filaggrin Ichthyosis vulgaris |
| Zdroj: | The Journal of investigative dermatology. 128(5) |
| ISSN: | 1523-1747 |
| Databáze: | OpenAIRE |
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