Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion

British Journal of Haematology

Volumn 128, Issue 3, 2005, Pages 380-385

  Hewitt, Jeff ^a   Ballard, Jennifer N M ^a   Nelson, Tanya N ^a,b   Smith, Valerie C ^a   Griffiths, Tanya A M ^a   Pritchard, Sheila ^a,b   Wu, John K ^a,b   Wadsworth, Louis D ^a,b   Casey, Brett ^a,b   MacGillivray, Ross T A ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

Author keywords

F7 gene deletion; Gla domain; Parenchymal cerebral haemorrhage; Pseudohomozygosity; Vitamin K dependent carboxylation

Indexed keywords

BLOOD CLOTTING FACTOR 7; DNA;

ALLELE; ARTICLE; BLOOD CLOTTING FACTOR 7 DEFICIENCY; BLOOD LEVEL; BRAIN HEMORRHAGE; CASE REPORT; CLINICAL FEATURE; CODON; DNA SEQUENCE; EXON; F7 GENE; FEMALE; GENE; GENE DELETION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INFANT; INHERITANCE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

CEREBRAL HEMORRHAGE; FACTOR VII; FACTOR VII DEFICIENCY; FACTOR X; FEMALE; GENE DELETION; HUMANS; INFANT, NEWBORN; MALE; PEDIGREE; POINT MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 13444253823     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2004.05296.x     Document Type: Article

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