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Titolo:
A FREQUENT MUTATION IN THE PROTEIN-S GENE RESULTS IN CRYPTIC SPLICING
Autore:
MUSTAFA S; PABINGER I; MANNHALTER C;
Indirizzi:
ALLGEMEINES KRANKENHAUS WIEN,KLIN INST MED & CHEM LABORDIAGNOST,LEITSTELLE 5H,MOL BIOL ABT A-1090 VIENNA AUSTRIA UNIV VIENNA,SCH MED,DEPT LAB MED,DIV MOL BIOL VIENNA AUSTRIA UNIV VIENNA,SCH MED,DEPT INTERNAL MED 1,DIV HAEMATOL & BLOOD COAGULATVIENNA AUSTRIA
Titolo Testata:
British Journal of Haematology
fascicolo: 3, volume: 97, anno: 1997,
pagine: 555 - 557
SICI:
0007-1048(1997)97:3<555:AFMITP>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEFICIENCY TYPE-I;
Keywords:
PROTEIN S DEFICIENCY; GENE ANALYSIS; CRYPTIC SPLICING; SPLICE SITE MUTATION; TRANSCRIPT ANALYSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
12
Recensione:
Indirizzi per estratti:
Citazione:
S. Mustafa et al., "A FREQUENT MUTATION IN THE PROTEIN-S GENE RESULTS IN CRYPTIC SPLICING", British Journal of Haematology, 97(3), 1997, pp. 555-557

Abstract

Protein S is a Vitamin K dependent coagulation inhibitor. One of several defects in the protein S gene (PROS1) associated with hereditary deficiency is a G --> A transition at position 5 of the splice donor inintron J. Although the mutation has been reported to cause allelic exclusion, we demonstrated low amounts of alternatively spliced ectopic PROS1 transcripts in carriers of this mutation. Sequencing of mutant RNA indicated the use of a cryptic splice site upstream of the common splice donor. The use of the cryptic splice site results in the deletion of 32 nucleotides at the 3' end of exon 10. The new reading frame contains several premature termination signals.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 09:23:42