Clinical classification of BRCA1 DNA missense variants: H1686Q is a novel pathogenic mutation occurring in the ontogenetically invariant THV motif of the N-terminal BRCT domain

Autor:	Luigi Frati, Sergio Ferraro, Laura De Marchis, Paolo Marchetti, Massimo Zani, Carlo Capalbo, Enrico Cortesi, Alberto Gulino, Giuseppe Giannini, Enrico Ricevuto, Laura Ottini, Domenico Vitolo, Amelia Buffone, Isabella Screpanti, E Margaria, Christian Rinaldi
Jazyk:	angličtina
Rok vydání:	2008
Předmět:	Genetics Cancer Research business.industry Conserved sequence chemistry.chemical_compound Protein structure BRCT domain Oncology chemistry DNA Mutational Analysis Missense mutation Medicine business Peptide sequence Gene DNA
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::454952f9b8497abff6bd2d094fccc86a http://hdl.handle.net/11697/3047 Zobrazit plný text záznamu