A A386g biallelic GPIbα gene mutation with anomalous behavior: A new mechanism suggested for Bernard-Soulier syndrome pathogenesis

Haematologica

Volumn 96, Issue 12, 2011, Pages 1878-1882

  Vettore, Silvia ^a,d   Tezza, Fabiana ^a,d   Malara, Alessandro ^b,d   Vianello, Fabrizio ^a,d   Pecci, Alessandro ^c,d   Scandellari, Raffaella ^a,d   Floris, Matteo ^c,d   Balduini, Alessandra ^b,d   Fabris, Fabrizio ^a,d  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

^b Biotechnology Laboratory   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d CENTER FOR ADVANCED STUDIES   (Italy)

Author keywords

Bernard soulier; Congenital thrombocytopenia; Glycoprotein Ib ; Platelets

Indexed keywords

ASPARAGINE; GLUTAMINE; GLYCOPROTEIN; GLYCOPROTEIN IB ALPHA; GLYCOPROTEIN IB BETA; GLYCOPROTEIN IX; MESSENGER RNA; RISTOCETIN; UNCLASSIFIED DRUG;

ADULT; AGGLUTINATION TEST; AMINO ACID SUBSTITUTION; ARTICLE; BERNARD SOULIER DISEASE; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; EXON; FLOW CYTOMETRY; GENE; GENE EXPRESSION; GENETIC VARIABILITY; GLYCOPROTEIN IB ALPHA GENE; HOMOZYGOTE; HUMAN; HUMAN CELL; HYDROCEPHALUS; IDIOPATHIC THROMBOCYTOPENIC PURPURA; IMMUNOFLUORESCENCE TEST; INTRACRANIAL HYPERTENSION; KLINEFELTER SYNDROME; MALE; MEGAKARYOCYTE; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; RNA SPLICING; SEQUENCE ANALYSIS; STOP CODON; THROMBOCYTE AGGLUTINATION; THROMBOCYTOPENIA; THROMBOCYTOPOIESIS; VARIABLE NUMBER OF TANDEM REPEAT; WESTERN BLOTTING;

ADULT; ALLELES; AMINO ACID SUBSTITUTION; BERNARD-SOULIER SYNDROME; ENHANCER ELEMENTS, GENETIC; EXONS; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MENTAL DISORDERS; MUTATION, MISSENSE; RNA SPLICING; RNA, MESSENGER;

EID: 82855163998     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2010.039008     Document Type: Article

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