A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier syndrome (BSS)

Thrombosis and Haemostasis

Volumn 94, Issue 3, 2005, Pages 599-605

  Liang, Hai Po Helena ^a,b   Morel Kopp, Marie Christine ^a   Clemetson, Jeannine M ^c   Clemetson, Kenneth J ^c   Kekomaki, Riitta ^d   Kroll, Hartmut ^e   Michaelides, Katerina ^f   Tuddenham, Edward G D ^f   Vanhoorelbeke, Karen ^g,h   Ward, Christopher M ^a,b  

^a ROYAL NORTH SHORE HOSPITAL   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITY OF BERN   (Switzerland)

^d FINNISH RED CROSS BLOOD SERVICE   (Finland)

^e Institute for Clinical Immunology and Transfusion Medicine   (Germany)

^f HAMMERSMITH HOSPITAL   (United Kingdom)

^g UNIVERSITY OF LEUVEN   (Belgium)

^h RESEARCH FOUNDATION FLANDERS FWO   (Belgium)

Author keywords

1828A>G Asn45Ser mutation; Bernard Soulier syndrome; Glycoprotein IX; Haplotype; Inherited platelet disorders

Indexed keywords

ASPARAGINE; GLYCOPROTEIN; GLYCOPROTEIN GP 9; SERINE; UNCLASSIFIED DRUG;

ARTICLE; AUSTRALIA; BERNARD SOULIER DISEASE; CHROMOSOME 3; CLINICAL ARTICLE; CONTROLLED STUDY; EUROPE; FAMILY STUDY; FOUNDER EFFECT; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RECOMBINATION; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; PRIORITY JOURNAL; PUBLISHING;

ALLELES; AMINO ACID SUBSTITUTION; AUSTRALIA; BERNARD-SOULIER SYNDROME; EUROPE; EVOLUTION, MOLECULAR; FOUNDER EFFECT; HAPLOTYPES; HEREDITY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MUTATION; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; POLYMORPHISM, SINGLE NUCLEOTIDE; SELECTION (GENETICS); TIME FACTORS;

EID: 24944581751     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH05-03-0165     Document Type: Article

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