Homozygous factor V splice site mutation associated with severe factor V deficiency

Blood

Volumn 99, Issue 8, 2002, Pages 3063-3065

  Schrijver, Iris ^a,b   Koerper, Marion A ^a,b   Jones, Carol D ^a,b   Zehnder, James L ^a,b  

^a STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5;

ARTICLE; BLEEDING DISORDER; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 0037089230     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V99.8.3063     Document Type: Article

References (15)

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8. Detection of BCR-ABL in hematologic malignancies by RT-PCR
9. Complete cDNA and derived amino acid sequence of human factor V
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13. Alternative splicing of pre-mRNA: Developmental consequences and mechanisms of regulation
14. The regulation of splice-site selection, and its role in human disease
15. Effect of 5′ splice site mutations on splicing of the preceding intron