Molecular diversity of Glanzmann thrombasthenia in Southern India: New insights into mRNA splicing and structure-function correlations of αIIbβ3 integrin (ITGA2B, ITGB3)

Human Mutation

Volumn 27, Issue 4, 2006, Pages 359-369

  Peretz, Hava ^a,c   Rosenberg, Nurit ^b   Landau, Meytal ^c   Usher, Saly ^a   Nelson, Everette J R ^d   Mor Cohen, Ronit ^b   French, Deborah L ^e   Mitchell, Beau W ^e   Nair, Sukesh C ^d   Chandy, Mammen ^d   Coller, Barry S ^f   Srivastava, Alok ^d   Seligsohn, Uri ^b,c  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b SHEBA MEDICAL CENTER   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d CHRISTIAN MEDICAL COLLEGE   (India)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^f ROCKEFELLER UNIVERSITY   (United States)

Author keywords

IIb 3 (ITGA2B, ITGB3); Founder effects; Glanzmann thrombasthenia; Integrin; Phylogenetic tree; Southern India; Splicing; Structure function correlation

Indexed keywords

ALPHA2BBETA3 INTEGRIN; ARGININE; CYSTEINE; GLUTAMINE; GLYCINE; INTEGRIN; LEUCINE; MESSENGER RNA; TRYPTOPHAN; TYROSINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALTERNATIVE RNA SPL_IB EXON; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BLOOD CLOT RETRACTION; CHILD; CONTROLLED STUDY; DISULFIDE BOND; FAMILY; FEMALE; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC CONSERVATION; GENETIC VARIABILITY; GLANZMANN DISEASE; HUMAN; HUMAN CELL; INDIA; ITGA2B GENE; ITGB3 GENE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PHYLOGENETIC TREE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA SPLICING; STRUCTURE ACTIVITY RELATION;

ALTERNATIVE SPLICING; AMINO ACID SUBSTITUTION; ANIMALS; CRICETINAE; DNA MUTATIONAL ANALYSIS; EVOLUTION, MOLECULAR; FOUNDER EFFECT; HAPLOTYPES; HUMANS; INDIA; MODELS, MOLECULAR; MUTATION, MISSENSE; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; PROTEIN STRUCTURE, SECONDARY; STRUCTURE-ACTIVITY RELATIONSHIP; THROMBASTHENIA;

ANIMALIA;

EID: 33645786359     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20304     Document Type: Article

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