A large Swiss family with Bernard-Soulier syndrome Correlation phenotype and genotype

Hamostaseologie

Volumn 29, Issue 2, 2009, Pages 161-167

  Zieger, B ^a   Jenny, A ^b   Tsakiris, D A ^c   Bartsch, I ^a   Sandrock, K ^a   Schubart, C ^a   Schafer S ^a   Busse, A ^a   Wuillemin, W A ^a,b,d  

^a UNIVERSITY OF FREIBURG   (Germany)

^b LUZERNER KANTONSSPITAL   (Switzerland)

^c UNIVERSITY HOSPITAL BASEL   (Switzerland)

^d UNIVERSITY OF BERN   (Switzerland)

Author keywords

Bernard Soulier syndrome; Bleeding symptoms; Glycoprotein Ib V IX; Missense mutation

Indexed keywords

DNA;

AMINO ACID SUBSTITUTION; ARTICLE; BERNARD SOULIER DISEASE; BLEEDING; BLOOD CELL COUNT; BLOOD SAMPLING; BLOOD SMEAR; CLINICAL ARTICLE; DNA SEQUENCE; FLUORESCENCE ACTIVATED CELL SORTING; GENETIC CORRELATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LABORATORY TEST; MISSENSE MUTATION; PHENOTYPE; PROTEIN EXPRESSION; THROMBOCYTE COUNT; THROMBOCYTE VOLUME; THROMBOCYTOPENIA;

EID: 66749144310     PISSN: 07209355     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1617027     Document Type: Article

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