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.

Brown D H, Triggs-Raine B L, McGinniss M J, Kaback M M

California Tay-Sachs Disease Prevention Program, Children's Hospital and Health Center, San Diego 92123-2752, USA.

Hum Mutat. 1995;5(2):173-4. doi: 10.1002/humu.1380050211.

Abstract

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