Recommendations for a nomenclature system for human gene mutations

摘要: This document has been written in response to meetings on “Locus-specific Mutation Databases” held March 24, 1996 Heidelberg, Germany and “Mutation October 29, San Francisco, California. As a chairperson of the Nomenclature committee, first author had accepted task preparing circulating with recommendations for debate, further discussions most importantly final approval/acceptance at meeting Francisco. Four drafts this (August 5, 1996, September November May 1997) were distributed number investigators, majority whom co-authors Beaudet et al, Beutler papers. contains modifications according their suggestions, opinions criticisms. Furthermore, many colleagues offered criticisms, ideas through electronic communication. During there was sufficient discussion these it agreed that another, modified draft would be posted “World Wide Web” debate period several weeks. present is also result all approved during 27, 1997 Baltimore. Two manuscripts recently published “Human Mutation” contain mutation nomenclature (Beaudet al., 1996). These documents views authors after 19, 1994, Montreal, 24-25, 1995 Minneapolis meetings. Other previously papers/ letters issues include following: & Tsui, 1993; Beutler, Antonarakis McKusick, 1994. It obvious unambiguous system based genomic DNA. Even Received 5 1997; 3 1997.