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Titolo:
Start of UK confidential haemophilia a database: Analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch
Autore:
Waseem, NH; Bagnall, R; Green, PM; Giannelli, F;
Indirizzi:
Guys Hosp, Div Med & Mol Genet, London SE1 9RT, England Guys Hosp LondonEngland SE1 9RT ed & Mol Genet, London SE1 9RT, England
Titolo Testata:
THROMBOSIS AND HAEMOSTASIS
fascicolo: 6, volume: 81, anno: 1999,
pagine: 900 - 905
SICI:
0340-6245(199906)81:6<900:SOUCHA>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
FACTOR-VIII GENE; HEMOPHILIA-B MUTATIONS; AMINO-ACID-SEQUENCE; COMPLETE CDNA; A PATIENTS; FACTOR-IX; DNA; INVERSIONS; DISEASE; BINDING;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
34
Recensione:
Indirizzi per estratti:
Indirizzo: Giannelli, F GuysSE1sp, Div Med & Mol Genet, 7th Floor Guys Tower,London Bridge, London Guys Hosp 7th Floor Guys Tower,London Bridge London England SE1 9RT
Citazione:
N.H. Waseem et al., "Start of UK confidential haemophilia a database: Analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch", THROMB HAEM, 81(6), 1999, pp. 900-905

Abstract

A national strategy for optimising genetic services in haemophilia A has been initiated in the UK. Solid phase fluorescent chemical cleavage of mismatch is used to screen the entire coding region of factor VIII in six segments: four amplified from the trace of mRNA in blood lymphocytes and two fromgenomic DNA for the 3.4 kb exon 14 and flanking intron sequences. These segments are analysed in two threefold multiplexes so that the. genes of 18 patients can be screened in a single ABI 377 gel. The promoter and polyadenylation signal region are amplified and sequenced directly. We have analysed142 unrelated patients and identified 141 factor VIII mutations and one Normandy type von Willebrand homozygote. The former mutations include 89 missense, 10 nonsense, 5 frameshift, one 24 bp deletion and one splice signal defect. These comprise 71 different changes, of which 39 have not been previously observed.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 13:45:52