Expanding the mutation spectrum affecting αIIbβ3 integrin in glanzmann thrombasthenia: Screening of the ITGA2B and ITGB3 genes in a large international cohort

Human Mutation

Volumn 36, Issue 5, 2015, Pages 548-561

  Nurden, Alan T ^a   Pillois, Xavier ^a,b   Fiore, Mathieu ^b   Alessi, Marie Christine ^c   Bonduel, Mariana ^d   Dreyfus, Marie ^e   Goudemand, Jenny ^f   Gruel, Yves ^g   Benabdallah Guerida, Schéhérazade ^h   Latger Cannard, Véronique ⁱ   Négrier, Claude ^j   Nugent, Diane ^k   Oiron, Roseline d ^e   Rand, Margaret L ^l   Sié, Pierre ^m   Trossaert, Marc ⁿ   Alberio, Lorenzo ^o   Martins, Nathalie ^p   Sirvain Trukniewicz, Peggy ^p   Couloux, Arnaud ^p   Canault, Mathias ^c   Fronthroth, Juan Pablo ^d   Fretigny, Mathilde ^j   Nurden, Paquita ^a,c   Heilig, Roland ^p   Vinciguerra, Christine ^j   more..

^a Ctr Geriatrie Ctr Hosp Univ B   (France)

^b UNIVERSITÉ DE BORDEAUX   (France)

^c TIMONE HOSPITAL   (France)

^d HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^e BICÊTRE HOSPITAL   (France)

^f LILLE UNIVERSITY HOSPITAL   (France)

^g SERVICE DE DERMATOLOGIE   (France)

^h Hôpital Cheikh Zaïd   (Morocco)

ⁱ CHU NANCY BRABOIS   (France)

^j Ctr de Diagn de Traitement/Prev   (France)

^k CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^l HOSPITAL FOR SICK CHILDREN   (Canada)

^m CHU PURPAN   (France)

ⁿ HÔTEL DIEU   (France)

^o LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^p UNIVERSITÉ D EVRY VAL D ESSONNE   (France)

more..

Author keywords

Glanzmann thrombasthenia; Integrin IIb 3; ITGA2B; ITGB3; Molecular modeling

Indexed keywords

ALPHA2 INTEGRIN; ALPHA2B BETA3 INTEGRIN; ANTIFIBRINOLYTIC AGENT; BETA3 INTEGRIN; UNCLASSIFIED DRUG; FIBRINOGEN RECEPTOR; ITGA2B PROTEIN, HUMAN; ITGB3 PROTEIN, HUMAN; RNA SPLICING;

AMINO ACID SUBSTITUTION; ARTICLE; BLEEDING; BRAIN HEMORRHAGE; COHORT ANALYSIS; COMPUTER MODEL; COS 7 CELL LINE; DNA SEQUENCE; EPISTAXIS; EXON; EXON SKIPPING; FLUORESCENCE ACTIVATED CELL SORTING; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC TRANSFECTION; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GLANZMANN DISEASE; GLYCOSYLATION; HEMARTHROSIS; HEMATOMA; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; IN VITRO STUDY; INTRON; MAJOR CLINICAL STUDY; MENARCHE; MISSENSE MUTATION; MOLECULAR DYNAMICS; MOLECULAR MODEL; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; OPEN READING FRAME; PETECHIA; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SIBLING; SITE DIRECTED MUTAGENESIS; SPLICING DEFECT; STOP CODON; THROMBOCYTE MEMBRANE; THROMBOCYTE TRANSFUSION; WESTERN BLOTTING; CHEMICAL STRUCTURE; CHEMISTRY; CLINICAL TRIAL; GENE REARRANGEMENT; GENETIC ASSOCIATION; GENETICS; MULTICENTER STUDY; MUTATION; NUCLEOTIDE SEQUENCE; PROTEIN CONFORMATION; PROTEIN DOMAIN; RNA SPLICING; THROMBASTHENIA;

COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EXONS; GENE REARRANGEMENT; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; GENOTYPE; HUMANS; INTEGRIN ALPHA2; INTEGRIN BETA3; MODELS, MOLECULAR; MUTATION; PHENOTYPE; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; PROTEIN CONFORMATION; PROTEIN INTERACTION DOMAINS AND MOTIFS; RNA SPLICE SITES; RNA SPLICING; SEQUENCE DELETION; THROMBASTHENIA;

EID: 84928175264     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22776     Document Type: Article

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