Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibβ mutations

European Journal of Haematology

Volumn 77, Issue 6, 2006, Pages 501-512

  Kunishima, Shinji ^a   Sako, Masahiro ^b   Yamazaki, Tomio ^a   Hamaguchi, Motohiro ^a   Saito, Hidehiko ^a  

^a NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

^b OSAKA CITY GENERAL HOSPITAL   (Japan)

Author keywords

Bernard Soulier syndrome; Congenital macrothrombocytopenia; GPIb IX complex

Indexed keywords

GLYCOPROTEIN IB; POLYPEPTIDE; PROTEIN SUBUNIT; SERINE; VON WILLEBRAND FACTOR;

ARTICLE; BERNARD SOULIER DISEASE; CELL SURFACE; CHO CELL; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSFECTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MOLECULAR GENETICS; PRIORITY JOURNAL; PROTEIN EXPRESSION; THROMBOCYTE; WILD TYPE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BERNARD-SOULIER SYNDROME; BLOOD PLATELETS; CHILD; CHO CELLS; CRICETINAE; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; THROMBOCYTOPENIA;

EID: 33750628560     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.0902-4441.2006.t01-1-EJH2817.x     Document Type: Article

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