Novel and Recurrent AAGAB Mutations: Clinical Variability and Molecular Consequences

Autor:	Andreas W. Arnold, Nadja Chmel, Dimitra Kiritsi, Thilo Jakob, Cristina Has, Leena Bruckner-Tuderman
Rok vydání:	2013
Předmět:	Male business.industry Genetic Variation Cell Biology Dermatology Computational biology Middle Aged Biology Biochemistry Adaptor Proteins Vesicular Transport Text mining Keratoderma Palmoplantar Humans Female RNA Splice Sites Carrier Proteins business Molecular Biology Aged
Zdroj:	Journal of Investigative Dermatology. 133:2483-2486
ISSN:	0022-202X
DOI:	10.1038/jid.2013.171
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4594174fb5d728711d3b2dc8b355f5f https://doi.org/10.1038/jid.2013.171 Zobrazit plný text záznamu