Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type I von Willebrand disease

Thrombosis and Haemostasis

Volumn 96, Issue 6, 2006, Pages 711-716

  Gallinaro, Lisa ^a   Sartorello, Francesca ^a   Pontara, Elena ^a   Cattini, Maria Grazia ^a   Bertomoro, Antonella ^a   Bartoloni, Lucia ^a   Pagnan, Antonio ^a   Casonato, Alessandra ^a,b  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

^b UNIVERSITY HOSPITAL OF PADOVA   (Italy)

Author keywords

von Willebrand disease; von Willebrand factor; VWF mRNA; VWF mutations

Indexed keywords

ADENINE; CYTOSINE; MESSENGER RNA; VON WILLEBRAND FACTOR;

ADULT; ARTICLE; CASE REPORT; EXON; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HOMOZYGOSITY; HUMAN; INTRON; MALE; MOLECULAR DYNAMICS; MOLECULAR RECOGNITION; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA PROCESSING; SEQUENCE ANALYSIS; STOP CODON; THROMBOCYTE; VON WILLEBRAND DISEASE; WILD TYPE;

ADENINE; ADULT; BLOOD COAGULATION; BLOOD COAGULATION TESTS; BLOOD PLATELETS; CYTOSINE; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR VIII; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; INTRONS; MALE; MUTATION; PEDIGREE; PLATELET FUNCTION TESTS; RNA SPLICE SITES; RNA SPLICING; RNA, MESSENGER; TIME FACTORS; TRANSCRIPTION, GENETIC; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 33845350235     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH06-07-0417     Document Type: Article

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