A Gln747 → Pro substitution in the α(IIb) subunit is responsible for a moderate α(IIb)β3 deficiency in Glanzmann thrombasthenia

Blood

Volumn 92, Issue 8, 1998, Pages 2750-2758

  Tadokoro, Seiji ^b   Tomiyama, Yoshiaki ^a   Honda, Shigenori ^b   Aral, Morio ^b   Yamamoto, Naomasa ^b   Shiraga, Masamichi ^b   Kosugi, Satoru ^b   Kanakura, Yuzuru ^b   Kurata, Yoshiyuki ^b   Matsuzawa, Yuji ^b  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ALANINE; CYTOSINE; GLUTAMINE; INTEGRIN; MESSENGER RNA; MONOCLONAL ANTIBODY; MUTANT PROTEIN; PROLINE; FIBRINOGEN RECEPTOR; HYBRID PROTEIN;

ADULT; ALPHA CHAIN; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; FEMALE; GLANZMANN DISEASE; GOLGI COMPLEX; HUMAN; HUMAN CELL; INTRACELLULAR TRANSPORT; JAPAN; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; ALLELE; BIOSYNTHESIS; CELL LINE; CONSENSUS SEQUENCE; ETHNOLOGY; GENE EXPRESSION REGULATION; GENETIC TRANSFECTION; GENETICS; GENOTYPE; METABOLISM; MIDDLE AGED; MISSENSE MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN PROCESSING; RNA SPLICING; TRANSPORT AT THE CELLULAR LEVEL;

ALLELES; AMINO ACID SUBSTITUTION; BIOLOGICAL TRANSPORT; CELL LINE; CONSENSUS SEQUENCE; FEMALE; GENE EXPRESSION REGULATION; GENOTYPE; GOLGI APPARATUS; HUMANS; JAPAN; MIDDLE AGED; MUTATION, MISSENSE; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN PROCESSING, POST-TRANSLATIONAL; RECOMBINANT FUSION PROTEINS; RNA SPLICING; RNA, MESSENGER; THROMBASTHENIA; TRANSFECTION;

EID: 0032531431     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v92.8.2750.420a33_2750_2758     Document Type: Article

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