A novel Pro126His β propeller mutation in integrin αIIb causes Glanzmann thrombasthenia by impairing progression of pro-αIIbβ3 from endoplasmic reticulum to Golgi

Blood Cells, Molecules, and Diseases

Volumn 42, Issue 1, 2009, Pages 44-50

  Shen, Wei Zhang ^a,b   Ding, Qiu Lan ^a   Jin, Pei Pei ^a   Wang, Xue Feng ^a   Jiang, Yu Zhen ^b   Li, Shu Mei ^b   Wang, Hong Li ^a  

^a SHANGHAI SECOND MEDICAL UNIVERSITY   (China)

^b JILIN UNIVERSITY   (China)

Author keywords

IIb mutation; IIb 3; Glanzmann thrombasthenia; Integrin

Indexed keywords

ALPHA2 INTEGRIN; INTEGRIN; INTEGRIN ALPHA2BETA3; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CELL SELECTION; ENDOPLASMIC RETICULUM; FEMALE; FLUORESCENCE ACTIVATED CELL SORTING; GENE MUTATION; GLANZMANN DISEASE; GOLGI COMPLEX; HETEROZYGOSITY; HUMAN; IMMUNOPRECIPITATION; IN VITRO STUDY; OVARY CELL; PRIORITY JOURNAL; SEQUENCE ANALYSIS; THROMBOCYTE; WESTERN BLOTTING;

ANIMALS; BLOOD PLATELETS; CHO CELLS; CRICETINAE; CRICETULUS; ENDOPLASMIC RETICULUM; EXONS; FAMILY; FEMALE; GOLGI APPARATUS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; PLATELET MEMBRANE GLYCOPROTEIN IIB; PROTEIN TRANSPORT; THROMBASTHENIA;

CRICETULUS GRISEUS;

EID: 58049106054     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2008.08.005     Document Type: Article

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