Identification of factor VIII gene mutations and carrier detection in Korean haemophilia A patients [1]

Haemophilia

Volumn 13, Issue 3, 2007, Pages 331-333

  Han, Jin Yeong ^a   Lee, J N ^b   Lee, S Y ^b   Kim, I J ^c   Kim, C M ^c  

^a Dong A University College of Medicine   (South Korea)

^b Inje University College of Medicine   (South Korea)

^c Pusan National University School of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8;

AMINO ACID SUBSTITUTION; CHROMOSOME INVERSION; DISEASE SEVERITY; ELECTROPHORESIS; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEMOPHILIA A; HUMAN; INTRON; KOREA; LETTER; LINKAGE ANALYSIS; MISSENSE MUTATION; MULTIPLEX POLYMERASE CHAIN REACTION; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL;

FACTOR VIII; FEMALE; HEMOPHILIA A; HUMANS; KOREA; MALE; MUTATION; PEDIGREE;

EID: 34248572203     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2007.01462.x     Document Type: Letter

References (5)

1. The Haemophilia A Mutation, Structure, Test and Resource Site (HAMSTeRS) 2005 http://europium.csc.mrc.ac.uk/WePages/Main/main.htm.
2. Kim JW, Park SY, Kim YM, Kim JM, Kim DJ, Ryu HM. Identification of new dinucleotide-repeat polymorphisms in factor VIII gene using fluorescent PCR. Haemophilia 2005; 11: 38-42.
3. Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 1998: 92: 1458-9.
4. Youssoufian H, Antonarakis SE, Aronis S, Tsiftis G, Phillips DG, Kazazian HH, Jr. Characterization of five partial deletions of the factor VIII gene. Proc Natl Acad Sci USA 1987; 84: 3772-6.
5. Habart D, Kalabova D, Novotny M, Vorlova Z. Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: Modeling of 13 novel amino acid substitutions. J Thromb Haemost 2003; 1: 773-81.