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Material Type: Artigo
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Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease‐causing mutations are recentPillois, Xavier ; Nurden, Alan T.British journal of haematology, 2016-11, Vol.175 (4), p.686-695 [Periódico revisado por pares]England: WileyTexto completo disponível |
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Material Type: Artigo
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Molecular genetic diagnosis of Tunisian Glanzmann thrombasthenia patients reveals a common nonsense mutation in the ITGA2B gene that seems to be specific for the studied populationAloui, Chaker ; Chakroun, Tahar ; Granados, Viviana ; Jemni-Yacoub, Saloua ; Fagan, Jocelyne ; Khelif, Abderrahim ; Kahloul, Najoua ; Hammami, Sabeur ; Chkioua, Latifa ; Barlier, Céline ; Cognasse, Fabrice ; Laradi, Sandrine ; Garraud, OlivierBlood coagulation & fibrinolysis, 2018-12, Vol.29 (8), p.689-696 [Periódico revisado por pares]England: Copyright YEAR Wolters Kluwer Health, Inc. All rights reservedTexto completo disponível |
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Material Type: Artigo
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Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International CohortNurden, Alan T. ; Pillois, Xavier ; Fiore, Mathieu ; Alessi, Marie-Christine ; Bonduel, Mariana ; Dreyfus, Marie ; Goudemand, Jenny ; Gruel, Yves ; Benabdallah-Guerida, Schéhérazade ; Latger-Cannard, Véronique ; Négrier, Claude ; Nugent, Diane ; Oiron, Roseline d ; Rand, Margaret L. ; Sié, Pierre ; Trossaert, Marc ; Alberio, Lorenzo ; Martins, Nathalie ; Sirvain-Trukniewicz, Peggy ; Couloux, Arnaud ; Canault, Mathias ; Fronthroth, Juan Pablo ; Fretigny, Mathilde ; Nurden, Paquita ; Heilig, Roland ; Vinciguerra, ChristineHuman mutation, 2015-05, Vol.36 (5), p.548-561 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Diagnosing Czech Patients with Inherited Platelet DisordersLouzil, Jan ; Stikarova, Jana ; Provaznikova, Dana ; Hrachovinova, Ingrid ; Fenclova, Tereza ; Musil, Jan ; Radek, Martin ; Kaufmanova, Jirina ; Geierova, Vera ; Ceznerova, Eliska ; Salaj, Peter ; Kotlin, RomanInternational journal of molecular sciences, 2022-11, Vol.23 (22), p.14386 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Development and Validation of Tumor-educated Blood Platelets Integrin Alpha 2b (ITGA2B) RNA for Diagnosis and Prognosis of Non-small-cell Lung Cancer through RNA-seqXing, Shan ; Zeng, Tao ; Xue, Ning ; He, Yi ; Lai, Yan-Zhen ; Li, Hui-Lan ; Huang, Qi ; Chen, Shu-Lin ; Liu, Wan-LiInternational journal of biological sciences, 2019-01, Vol.15 (9), p.1977-1992 [Periódico revisado por pares]Australia: Ivyspring International Publisher Pty LtdTexto completo disponível |
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Material Type: Artigo
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Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutationsZafarghandi Motlagh, F ; Fallah, M S ; Bagherian, H ; Shirzadeh, T ; Ghasri, S ; Dabbagh, S ; Jamali, M ; Salehi, Z ; Abiri, M ; Zeinali, SOrphanet journal of rare diseases, 2019-04, Vol.14 (1), p.87-87, Article 87 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Glanzmann Thrombasthenia: Perspectives from Clinical Practice on Accurate Diagnosis and Optimal Treatment StrategiesMathews, Natalie ; Rivard, Georges-Etienne ; Bonnefoy, ArnaudJournal of blood medicine, 2021-07, Vol.12, p.449-463 [Periódico revisado por pares]Macclesfield: Dove Medical Press LimitedTexto completo disponível |
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Material Type: Artigo
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Glanzmann Thrombasthenia in Pakistani Patients: Identification of 7 Novel Pathogenic Variants in the Fibrinogen Receptor αIIbβ3Siddiqi, Muhammad Younus Jamal ; Boeckelmann, Doris ; Naz, Arshi ; Imran, Ayisha ; Ahmed, Shariq ; Najmuddin, Akbar ; Zieger, BarbaraCells (Basel, Switzerland), 2023-01, Vol.12 (2), p.213 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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ITGA2B and ITGA8 are predictive of prognosis in clear cell renal cell carcinoma patientsLu, Xiaolin ; Wan, Fangning ; Zhang, Hailiang ; Shi, Guohai ; Ye, DingweiTumor biology, 2016, Vol.37 (1), p.253-262 [Periódico revisado por pares]Dordrecht: Springer NetherlandsTexto completo disponível |