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Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens

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Year: 2000
Type: article
Study design: Observational Study
Source: Experimental Dermatology
DOI: 10.1034/j.1600-0625.2000.009001011.x
Authors: Y. Suga, M. J. Arin, G. Scott, L. A. Goldsmith, C. M. Magro, L. A. Baden, H. P. Baden, D. R. Roop
Institutions: Baylor College of Medicine, University of Rochester Medicine, University of Rochester, Harvard University, Massachusetts General Hospital
Language: English

Topic: Skin and Cellular Biology Research
Subfield: Cell Biology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: Dermatology Foundation, University of Rochester, Deutsche Forschungsgemeinschaft, National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: G2417035467, REGULATION AND FUNCTION OF KERATINS IN THE EPIDERMIS
OpenAlex ID: W2005778401
FWCI: 0.493
Cites:
Cited by: 10
Related to: 10
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