MLPA assay in F8 gene mutation screening

Haemophilia

Volumn 14, Issue 3, 2008, Pages 625-627

  Acquila, M ^a   Pasino, Mirella ^a,b   Di Duca, M ^b   Bottini, F ^a   Molinari, A C ^a   Bicocchi, M P ^a  

^a Department of Haematology and Oncology   (Italy)

^b G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANALYTIC METHOD; ARTICLE; CASE REPORT; DAUGHTER; DNA EXTRACTION; EXON; FEMALE; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; HEMOPHILIA; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; INTRON; MALE; MOTHER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RELATIVE; RETROSPECTIVE STUDY;

EXONS; FACTOR VIII; FEMALE; GENE DELETION; GENETIC SCREENING; HEMOPHILIA A; HUMANS; MALE; PREGNANCY; RETROSPECTIVE STUDIES;

EID: 43149089394     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01659.x     Document Type: Article

References (5)

1. Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993; 5: 236-41.
2. Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168-74.
3. Kemball-Cook G, Tuddenham EG, Wacey AI. The factor VIII structure and mutation resource Site: HAMSTeRS version 4. Nucleic Acids Res 1998; 26: 216-9.
4. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002; 30: E57.
5. Acquila M, Pasino M, Lanza T, Bottini F, Molinari AC, Bicocchi MP. Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy. Haematologica 2004; 89: 758-9.