A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation.

Autor: Hartikainen JM; Chromosome and DNA laboratory, Kuopio University Hospital, P. O. BOX 1777, FIN-70211 Kuopio, Finland. Jaana.Hartikainen@kuh.fi, Pirskanen MM, Arffman AH, Ristonmaa UK, Mannermaa AJ

Publikováno v: Human mutation [Hum Mutat] 2000 Jan; Vol. 15 (1), pp. 120.