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A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele
Author(s) -
Gathungu Grace,
Kim Hung Jeff,
Morell Robert J.
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)13:5<414::aid-humu16>3.0.co;2-8
Subject(s) - nonsense mutation , nonsense , genetics , allele , molecular genetics , compound heterozygosity , mutation , biology , gene , missense mutation