218 related articles for article (PubMed ID: 7482399)
1. Abnormal processing of the glycoprotein IIb transcript due to a nonsense mutation in exon 17 associated with Glanzmann's thrombasthenia.
Tomiyama Y; Kashiwagi H; Kosugi S; Shiraga M; Kanayama Y; Kurata Y; Matsuzawa Y
Thromb Haemost; 1995 May; 73(5):756-62. PubMed ID: 7482399
[TBL] [Abstract][Full Text] [Related]
2. Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I.
Vannier C; Behnisch W; Bartsch I; Sandrock K; Ertle F; Schmidt K; Busse A; Superti-Furga A; Kulozik A; Santoso S; Zieger B
Klin Padiatr; 2010 May; 222(3):150-3. PubMed ID: 20514618
[TBL] [Abstract][Full Text] [Related]
3. A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutation.
Lanza F; Stierlé A; Fournier D; Morales M; André G; Nurden AT; Cazenave JP
J Clin Invest; 1992 Jun; 89(6):1995-2004. PubMed ID: 1602006
[TBL] [Abstract][Full Text] [Related]
4. Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes.
Vinciguerra C; Bordet JC; Beaune G; Grenier C; Dechavanne M; Négrier C
Platelets; 2001 Dec; 12(8):486-95. PubMed ID: 11798398
[TBL] [Abstract][Full Text] [Related]
5. Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia.
Ruan J; Schmugge M; Clemetson KJ; Cazes E; Combrie R; Bourre F; Nurden AT
Br J Haematol; 1999 May; 105(2):523-31. PubMed ID: 10233432
[TBL] [Abstract][Full Text] [Related]
6. Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes.
González-Manchón C; Fernández-Pinel M; Arias-Salgado EG; Ferrer M; Alvarez MV; García-Muñoz S; Ayuso MS; Parrilla R
Blood; 1999 Feb; 93(3):866-75. PubMed ID: 9920835
[TBL] [Abstract][Full Text] [Related]
7. A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia.
Grimaldi CM; Chen F; Scudder LE; Coller BS; French DL
Blood; 1996 Sep; 88(5):1666-75. PubMed ID: 8781422
[TBL] [Abstract][Full Text] [Related]
8. Abnormal processing of the glycoprotein IIb transcript due to a nonsense mutation in exon 17 associated with Glanzmann's thrombasthenia.
Tomiyama Y; Kashiwagi H; Kosugi S; Shiraga M; Kanayama Y; Kurata Y; Matsuzawa Y
Thromb Haemost; 1995 Aug; 74(2):811. PubMed ID: 8585038
[No Abstract] [Full Text] [Related]
9. An exon 28 mutation resulting in alternative splicing of the glycoprotein IIb transcript and Glanzmann's thrombasthenia.
Iwamoto S; Nishiumi E; Kajii E; Ikemoto S
Blood; 1994 Feb; 83(4):1017-23. PubMed ID: 8111043
[TBL] [Abstract][Full Text] [Related]
10. Detection by PCR and HphI restriction analysis of a splice site mutation at the 5' end of intron 15 of the platelet GPIIb (alpha IIb integrin) gene responsible for Glanzmann's thrombasthenia type I in Gypsies originating from the Strasbourg area.
de la Salle C; Schwartz A; Baas MJ; Lanza F; Cazenave JP
Thromb Haemost; 1995 Sep; 74(3):990-1. PubMed ID: 8571335
[No Abstract] [Full Text] [Related]
11. Nonsense mutation in exon-19 of GPIIb associated with thrombasthenic phenotype. Failure of GPIIb(delta597-1008) to form stable complexes with GPIIIa.
Arias-Salgado EG; Tao J; González-Manchón C; Butta N; Vicente V; Ayuso MS; Parrilla R
Thromb Haemost; 2002 Apr; 87(4):684-91. PubMed ID: 12008952
[TBL] [Abstract][Full Text] [Related]
12. Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: a proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex.
Kato A; Yamamoto K; Miyazaki S; Jung SM; Moroi M; Aoki N
Blood; 1992 Jun; 79(12):3212-8. PubMed ID: 1317725
[TBL] [Abstract][Full Text] [Related]
13. Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia.
Ruan J; Peyruchaud O; Alberio L; Valles G; Clemetson K; Bourre F; Nurden AT
Br J Haematol; 1998 Sep; 102(4):918-25. PubMed ID: 9734640
[TBL] [Abstract][Full Text] [Related]
14. A 1063G-->A mutation in exon 12 of glycoprotein (GP)IIb associated with a thrombasthenic phenotype: mutation analysis of [324E]GPIIb.
Tao J; Arias-Salgado EG; González-Manchón C; Iruín G; Butta N; Ayuso MS; Parrilla R
Br J Haematol; 2000 Dec; 111(3):965-73. PubMed ID: 11122161
[TBL] [Abstract][Full Text] [Related]
15. [Mutation screening and prenatal diagnosis of a pedigree with Glanzmann's thrombasthenia].
Li W; Liu JL; Li LY; Lu GX
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Jun; 28(3):251-5. PubMed ID: 21644217
[TBL] [Abstract][Full Text] [Related]
16. A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa.
Losonczy G; Rosenberg N; Kiss C; Kappelmayer J; Vereb G; Kerényi A; Balogh I; Muszbek L
Thromb Haemost; 2005 May; 93(5):904-9. PubMed ID: 15886807
[TBL] [Abstract][Full Text] [Related]
17. A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia.
Burk CD; Newman PJ; Lyman S; Gill J; Coller BS; Poncz M
J Clin Invest; 1991 Jan; 87(1):270-6. PubMed ID: 1702098
[TBL] [Abstract][Full Text] [Related]
18. Role of RFLP using TspRI for carrier detection in Glanzmann's thrombasthenia: a report on two families.
Kannan M; Yadav BK; Ahmad F; Saxena R
Int J Lab Hematol; 2010 Feb; 32(1 Pt 1):e158-62. PubMed ID: 19170775
[TBL] [Abstract][Full Text] [Related]
19. Truncation of glycoprotein (GP) IIIa (616-762) prevents complex formation with GPIIb: novel mutation in exon 11 of GPIIIa associated with thrombasthenia.
Ferrer M; Tao J; Iruín G; Sánchez-Ayuso M; González-Rodríguez J; Parrilla R; González-Manchón C
Blood; 1998 Dec; 92(12):4712-20. PubMed ID: 9845537
[TBL] [Abstract][Full Text] [Related]
20. A novel (288delC) mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia.
Tao J; Arias-Salgado EG; González-Manchón C; Díaz-Cremades J; Ayuso MS; Parrilla R
Br J Haematol; 2000 Oct; 111(1):96-103. PubMed ID: 11091187
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
