Glanzmann's thrombasthenia: Identification of 19 new mutations in 30 patients

Thrombosis and Haemostasis

Volumn 87, Issue 6, 2002, Pages 1034-1042

  D'Andrea, Giovanna ^a   Colaizzo, Donatella ^a   Vecchione, Gennaro ^a   Grandone, Elvira ^a   Di Minno, Giovanni ^a   Margaglione, Maurizio ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

Glanzmann's thrombasthenia; Mutations; IIb and 3 genes

Indexed keywords

ALANINE; ALPHA2B INTEGRIN; BETA3 INTEGRIN; DNA; INTEGRIN; PROLINE; UNCLASSIFIED DRUG; GLYCOPROTEIN IIB; PRIMER DNA; THROMBIN RECEPTOR;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLEEDING TENDENCY; CHILD; CLINICAL ARTICLE; CONSENSUS SEQUENCE; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA ISOLATION; EVIDENCE BASED MEDICINE; EXON; FEMALE; FLOW CYTOMETRY; FOUNDER EFFECT; GENE DELETION; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENETIC CONSERVATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC SCREENING; GLANZMANN DISEASE; HETEROZYGOTE DETECTION; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NONSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; THROMBOCYTE FUNCTION; GENETICS; GENOTYPE; INFANT; ITALY; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROTEIN MOTIF;

ADOLESCENT; ADULT; AMINO ACID MOTIFS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; INFANT; INTEGRIN BETA3; ITALY; MALE; MUTATION; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; PLATELET MEMBRANE GLYCOPROTEIN IIB; POLYMERASE CHAIN REACTION; THROMBASTHENIA;

EID: 0036282646     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1613129     Document Type: Article

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