Screen of 55 Slovenian haemophilia A patients: Identification of 2 novel mutations (S-1R and IVS23+1G→A) and discussion of mutation spectrum

✍ Scribed by Lana Strmecki; Majda Benedik-Dolnicar; Katja Vouk; Radovan Komel

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 22 KB
• Volume: 13
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1999)13:5<413::aid-humu15>3.0.co;2-e

✦ Synopsis

Communicated by Haig Kazazian

Using polymerase chain reaction, single-stranded conformational polymorphism (SSCP), TaqI restriction analysis and direct sequencing, exons 1,