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Identification of two PAX3 mutations causing waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)
Author(s) -
Hol Frans A.,
Geurds Monique P.A.,
Cremers Cor W.R.J.,
Hamel Ben C.J.,
Mariman Edwin C.M.
Publication year - 1998
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/humu.1380110149
Subject(s) - human genetics , genetics , nijmegen breakage syndrome , biology , molecular genetics , gene , dna , dna damage , ataxia telangiectasia