A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibα gene in a patient with Bernard-Soulier syndrome

Blood Coagulation and Fibrinolysis

Volumn 20, Issue 6, 2009, Pages 470-474

  Imai, Chihaya ^a   Kunishima, Shinji ^b   Takachi, Takayuki ^a   Iwabuchi, Haruko ^a   Nemoto, Tae ^a   Imamura, Masaru ^a   Uchiyama, Makoto ^a  

^a NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^b NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

Author keywords

Bernard Soulier syndrome; Deletion mutation; Glycoprotein Ib ; Immune thrombocytopenic purpura; Macrothrombocytopenia

Indexed keywords

AMINO ACID; GLYCOCALICIN; GLYCOPROTEIN; GLYCOPROTEIN 9; GLYCOPROTEIN IB ALPHA; GLYCOPROTEIN IB BETA; IMMUNOGLOBULIN; UNCLASSIFIED DRUG;

ANAMNESIS; ARTICLE; BERNARD SOULIER DISEASE; CASE REPORT; CELL LYSATE; CHILD; COMPLEX FORMATION; DRUG MEGADOSE; FEMALE; FLOW CYTOMETRY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; IMMUNOBLOTTING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHYSICAL EXAMINATION; PLASMA; PRESCHOOL CHILD; PRIORITY JOURNAL; STOP CODON; THROMBOCYTE COUNT; THROMBOCYTOPENIA;

AMINO ACID SEQUENCE; BERNARD-SOULIER SYNDROME; CODON, NONSENSE; DISEASES IN TWINS; DNA MUTATIONAL ANALYSIS; EPISTAXIS; FEMALE; FRAMESHIFT MUTATION; HOMOZYGOTE; HUMANS; INFANT; MEMBRANE GLYCOPROTEINS; MINISATELLITE REPEATS; MOLECULAR SEQUENCE DATA; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION;

EID: 69549104800     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e32832b27fa     Document Type: Article

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