Author/Editor		Strmecki, Lana; Benedik-Dolničar, Majda; Vouk, Katja; Komel, Radovan
Title		Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G->A) and discussion of mutation spectrum
Type		članek
Source		Hum Mutat
Vol. and No.		Letnik 13, št. 5
Publication year		1999
Volume		str. 413
Language		eng
Abstract		Using polymerase chain reaction, single-stranded conformational polymorphism (SSCP), Taql restriction analysis and direct sequencing, exons 1, 7, 8, 9, 12, 13, 14, 18, 22, 23, 2:t. and 26 of the factor VIII gene were screened for point mutations in 55 Slovenian haemophilia A patients. In eighteen patients eleven different mutations were found; one (in six patients) in exon 26, one (in two patients) in exon 24, two in exon 23, one in intron 23, one in exon 18, one in exon 12, one in exon 8, two (1 + 1 in two patients) in exon 7 and one in exon l. Of the mutations detected one has recently been reported by us (Q602X), and two are novel; S-IR in exon 1 and IVS23+IG--A in intron 23.
Descriptors		HEMOPHILIA GENETIC SCREENING POINT MUTATION FACTOR VIII POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL SLOVENIA