Effect of the F8 mutation c.1538-2A>T on pre-mRNA splicing

Haemophilia

Volumn 15, Issue 6, 2009, Pages 1348-1350

  Laurie, A D ^a   Smith, M P ^a  

^a CANTERBURY HEALTH LABORATORIES   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; BLOOD CLOTTING FACTOR 8; MESSENGER RNA; RNA; THYMINE;

AGAR GEL ELECTROPHORESIS; BASE PAIRING; CASE REPORT; CHILD; DISEASE SEVERITY; DNA DETERMINATION; EXON; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; HEMOPHILIA A; HUMAN; INTRON; LETTER; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FOLDING; RNA ISOLATION; RNA SPLICING; SCHOOL CHILD; SEQUENCE ANALYSIS; SPLICEOSOME;

FACTOR VIII; HEMOPHILIA A; HUMANS; POINT MUTATION; RNA PRECURSORS; RNA SPLICING;

EID: 70449553018     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2009.02087.x     Document Type: Letter

References (4)

1. Vreeswijk MPG, Kraan JN, van der Klift HM. Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs. Hum Mut 2009, 30:107-14.
2. El-Maarri O, Klein C, Junen J, Scharrer I, Schramm W. Splice site mutations effect on the F8 mRNA splicing. 36th Hemophilia Symposium Hamburg 2005 2005, 291-4. In, eds, New York, Springer
3. Tavassoli K, Eigel A, Pollmann H. Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations. Hum Genet 1997, 100:508-11.
4. Jayandharan G, Shaji RV, Baidya S. Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of10 novel missense substitutions. Haemophilia 2005, 11:481-91.