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Journal Abstract Search

286 related items for PubMed ID: 11793485

  • 1. Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.
    El-Hakeh J, Rosenzweig S, Oleastro M, Basack N, Berozdnik L, Molina F, Rivas EM, Zelazko M, Danielian S.
    Hum Mutat; 2002 Feb; 19(2):186-7. PubMed ID: 11793485
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  • 2. Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
    Itoh S, Nonoyama S, Morio T, Imai K, Okawa H, Ochs HD, Shimadzu M, Yata J.
    Int J Hematol; 2000 Jan; 71(1):79-83. PubMed ID: 10729999
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  • 3. Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.
    Lemahieu V, Gastier JM, Francke U.
    Hum Mutat; 1999 Jan; 14(1):54-66. PubMed ID: 10447259
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  • 4. Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
    Bourne HC, Weston S, Prasad M, Edkins E, Benson EM.
    Pathology; 2004 Jun; 36(3):262-4. PubMed ID: 15203732
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  • 5. Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome.
    Brooimans RA, van den Berg AJ, Tamminga RY, Revesz T, Wulffraat NM, Zegers BJ.
    Hum Mutat; 2000 Apr; 15(4):386-7. PubMed ID: 10737997
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  • 7. Detection of six novel mutations in WASP gene in fifteen Iranian Wiskott-Aldrich patients.
    Safaei S, Fazlollahi MR, Houshmand M, Hamidieh AA, Bemanian MH, Alavi S, Mousavi F, Pourpak Z, Moin M.
    Iran J Allergy Asthma Immunol; 2012 Dec; 11(4):345-8. PubMed ID: 23264413
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  • 9. Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.
    Proust A, Guillet B, Picard C, de Saint Basile G, Pondarré C, Tamary H, Dreyfus M, Tchernia G, Fischer A, Delaunay J.
    Blood Cells Mol Dis; 2007 Dec; 39(1):102-6. PubMed ID: 17400488
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  • 16. IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family.
    Yoon SH, Cho T, Kim HJ, Kim SY, Ko JH, Baek HS, Lee HJ, Lee CH.
    Pediatr Blood Cancer; 2012 Feb; 58(2):297-9. PubMed ID: 22038941
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  • 17. A novel termination codon mutation of the WAS gene in a Thai family with Wiskott-Aldrich syndrome.
    Chatchatee P, Srichomthong C, Chewatavorn A, Shotelersuk V.
    Int J Mol Med; 2003 Dec; 12(6):939-41. PubMed ID: 14612970
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  • 19. A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4.
    Doğu F, Ariga T, Ikincioğullari A, Bozdoğan G, Aytekin C, Metin A, Babacan E.
    Turk J Pediatr; 2006 Dec; 48(1):66-8. PubMed ID: 16562789
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  • 20. Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis.
    Giliani S, Fiorini M, Mella P, Candotti F, Schumacher RF, Wengler GS, Lalatta F, Fasth A, Badolato R, Ugazio AG, Albertini A, Notarangelo LD.
    Prenat Diagn; 1999 Jan; 19(1):36-40. PubMed ID: 10073904
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