αIIbβ3 integrin: New allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function

Human Mutation

Volumn 31, Issue 3, 2010, Pages 237-246

  Jallu, Vincent ^a   Dusseaux, Mathilde ^a   Panzer, Simon ^b   Torchet, Marie Françoise ^c   Hezard, Nathalie ^d   Goudemand, Jenny ^e   De Brevern, Alexandre G ^f   Kaplan, Cécile ^a  

^a INSTITUT NATIONAL DE LA TRANSFUSION SANGUINE   (France)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d SERVICE DE DERMATOLOGIE   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f hôpital Robert Debré et Institut national de la transfusion sanguine   (France)

Author keywords

Glanzmann; ITGA2B; ITGB3; Protein structure modeling; IIb 3

Indexed keywords

ALPHA2B BETA3 INTEGRIN; FIBRINOGEN RECEPTOR; MESSENGER RNA; UNCLASSIFIED DRUG; ALPHA2 INTEGRIN; BETA3 INTEGRIN; ITGA2B PROTEIN, HUMAN;

ALLELE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; ASIAN; CAUCASIAN; CELL SURFACE; CONTROLLED STUDY; EXON; GENE; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC VARIABILITY; GLANZMANN DISEASE; HETEROZYGOTE; ITGA2B GENE; ITGB3 GENE; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; NORTH AFRICA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; RNA SPLICING; ALTERNATIVE RNA SPLICING; ANIMAL; CELL STRAIN COS1; CERCOPITHECUS; GENE EXPRESSION REGULATION; GENETICS; HUMAN; MOLECULAR GENETICS; STRUCTURE ACTIVITY RELATION;

ALLELES; ALTERNATIVE SPLICING; ANIMALS; BASE SEQUENCE; CERCOPITHECUS AETHIOPS; COS CELLS; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION REGULATION; HUMANS; INTEGRIN ALPHA2; INTEGRIN BETA3; MOLECULAR SEQUENCE DATA; RECEPTORS, FIBRINOGEN; STRUCTURE-ACTIVITY RELATIONSHIP; THROMBASTHENIA;

EID: 77149172820     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21179     Document Type: Article

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