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A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9‐1 G→T] detected by a PCR‐based diagnostic test
Author(s) -
Brown David H.,
TriggsRaine Barbara L.,
McGinniss Matthew J.,
Kaback Michael M.
Publication year - 1995
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.1380050211
Subject(s) - disease control , splice site mutation , medicine , genetics , gerontology , biology , rna splicing , gene , virology , rna