Glanzmann’s thrombasthenia

P3 pS integrin Osteopetrosis developing in adult animals Glanzmann s thrombasthenia... 

Glanzmann s thrombasthenia Autosomal recessive bleeding disorder absence, reduction, or dysfunction of GPIIb/IIIa complex... 

Defects of platelet aggregation—these causing (a) Glanzmann s thrombasthenia and (b) congenital anbrogenemia. 

Hagen I, Nurden A, Bjenum OJ, et al. Immunochemical evidence for protein alMioimalities in platelets from patients with Glanzmann s thrombasthenia and Bernard Soulier Syndrome. J Clin Invest 1980 65 722-731. 

Type I Glanzmann s thrombasthenia has been described in a female Great Pyrenees (Boudreaux et al. 1996a). Platelets have minimal aggregation in resporrse to ADP, collagen, thrombin, and PAF, and clot retraction is severely impaired. Surface expression of glycoprotein Ilbllla is markedly reduced. Therefore, this disorder closely resembles human type I Glanzmann s thrombasthenia. 

French DL The molecular genetics of Glanzmann s thrombasthenia Platelets 9 5-20,1998. 

Awidi AS Increased incidence of Glanzmann s thrombasthenia in Jordan compared with Scandinavia ScandJ Haematol 30 218-222,1983. 

Holahan JR, White GCI Heterogeneity of membrane surface proteins in Glanzmann s thrombasthenia Blood 57 174-181,1981. 

Kalo A Ihe biologic and clinical spectrum of Glanzmann s thrombasthenia implications of integrin ag,b, for its pathogenesis. Crit Rev Oncol/Hematol 26 1-23,1997. 

Grimaldi CM, Chen FP, Scudder LE, Coller BS, French DL A Cys374Tyr homozygous mutation of platelet glycoprotein ina(b,) in a Chinese patient with Glanzmann s thrombasthenia Blood 88 1666-1675, 1996. 

JoningsLK, AdmunRA, WangWe, Dodder ME Analysis ofhuman platelet glycoproteins Ilb-lIIa and Glanzmann s thrombasthenia in whole blood by flow cytometry. Blocxl 68 173-179,1986. 

Nurden AT, Didry D, Kieffer N, McEver RP Readud amounts of glycoproteins lib and Ilia may be present in the platdetsofmost patients with Glanzmann s thrombasthenia Blood 65 1021-1024,1985. 

Djafler I, Rosal-P A second case of variant of Glanzmann s thrombasthenia due to substitution of platelet GPIIIa (integrin b,) Arg214 by Trp. Hum Mol Genet 2 2179-2180,1993. 

Tomiyama Y, Kashiwagi H, Kosugi S, Shiraga M, Kanayama Y, Kurata Y, Matsuzawa Y Atmormal processing of the glycoprotein lib transcript due to a nonsense mutation in exon 17 assodated with Glanzmann s thrombasthenia Thromb Haemost 73 756-762,1995. 

Djaffar I, Caen JP, Rosa J-P A large alteration in the human platelet glycoprotein Ilia (int rin b,) gene assodated with Glanzmann s thrombasthenia Hum Mol Genet 2 2183-2185,1993. 

Iwamoto S, Nishiumi E, Kajii E, Ikonoto S An exon 28 mutation resulting in alternative splicing of the glycoprotein Ilb transcript and Glanzmann s thrombasthenia Blood 83 1017-1023,1994. 

Peretz H, Ros nb Tg N, Usher S, Graff E, Newman PJ, Coller BS, Seiigadm U Glanzmann s thrombasthenia associated with deletion-insertion and alternative spliang in the glyooprotein lib gene. Blood 85 414-420,1995. 

Simsek S, Heyboer H, de Bruijne-Admiraal LG, Goldschmeding R, Cuijpers HTM, von dem Borne AEGK Glanzmann s thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein Ilia mRNA. Blood 81 2044-2049,1993. 

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