Single novel mutation in transmembrane region of glycoprotein (GP) IX affects GP Ib- IX complex expression and causes Bernard-Soulier syndrome

British Journal of Haematology

Volumn 150, Issue 5, 2010, Pages 627-629

  Xu, Li Min ^a   Sun, Guang Bin ^b   Wang, Peng ^c   Sun, Na ^b   Hu, Qiu Ping ^d   Cao, Fan Fan ^a   Peng, Bin ^a   Zhang, Deng Hai ^a  

^a Shanghai Gongli Hospital   (China)

^b ENT Department of SGH   (China)

^c Medical Affair Department of SGH   (China)

^d Shanghai Majorbio Bio pharm Technology Co Ltd   (China)

Author keywords

Bernard Soulier Syndrome; bleeding disorders; DNA mutation; glycoproteins; platelet genetic diseases

Indexed keywords

GENOMIC DNA; GLYCOPROTEIN; GLYCOPROTEIN IB ALPHA; GLYCOPROTEIN IB BETA; GLYCOPROTEIN IB IX; GLYCOPROTEIN IIB; GLYCOPROTEIN IIIA; GLYCOPROTEIN IX; GLYCOPROTEIN V; UNCLASSIFIED DRUG; THROMBIN RECEPTOR;

BERNARD SOULIER DISEASE; CASE REPORT; CHILD; DNA SEQUENCE; FEMALE; FLOW CYTOMETRY; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LETTER; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; GENETICS; MALE; MUTATION;

BERNARD-SOULIER SYNDROME; CHILD; FEMALE; HUMANS; MALE; MUTATION; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX;

EID: 77955820945     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2010.08241.x     Document Type: Letter

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