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A novel Wiskott-Aldrich syndrome protein (WASP) complex mutation identified in a WAS patient results in an aberrant product at the C-terminus from two transcripts with unusual polyA signals.

• Authors : Andreu N; Programa Gens i Malaltia, Centre de Regulació Genòmica-CRG-UPF, Passeig Marítim, 37-49, 08003, Barcelona, Spain.; García-Rodríguez M

Subjects: Alternative Splicing/Alternative Splicing/Alternative Splicing/*genetics ; Mutation/Mutation/Mutation/*genetics ; Poly A/Poly A/Poly A/*genetics

• Source: Journal of human genetics [J Hum Genet] 2006; Vol. 51 (2), pp. 92-97. Date of Electronic Publication: 2005 Dec 22.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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Wiskott-Aldrich syndrome protein needed for vaccinia virus pathogenesis.

• Source: World Disease Weekly. 2005, pages. 1657

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Microbial strategies to exploit host cells.

• Authors : Marjomäki, Varpu; Schaible, Ulrich E.

Subjects: CONFERENCES & conventions; LIFE sciences; PATHOGENIC microorganismsSPAIN

• Source: EMBO Reports; May2005, Vol. 6 Issue 5, p413-417, 5p

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Clathrin-mediated transport: assembly required.

• Authors : Puertollano, Rosa

Subjects: COATED vesicles; FORUMS; PROTEINSMADRID (Spain); SPAIN

• Source: EMBO Reports; Oct2004, Vol. 5 Issue 10, p942-946, 5p

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Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.

• Authors : Fillat C; Centre de Genètica Mèdica i Molecular, Institut de Recerca Oncològica (IRO), L'Hospitalet de Llobregat, Barcelona, Spain. ; Español T

Subjects: Codon, Nonsense* ; Frameshift Mutation* ; Mutation, Missense*

• Source: American journal of medical genetics [Am J Med Genet] 2001 Apr 22; Vol. 100 (2), pp. 116-21.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print)

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Cooperative epithelial phagocytosis enables error correction in the early embryo.

• Authors : Hoijman, Esteban; Häkkinen, Hanna-Maria; Tolosa-Ramon, Queralt

• Source: Nature. February 25, 2021, Vol. 590 Issue 7847, p618, 6 p.

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Analysis of gene variants in the GASH/Sal model of epilepsy.

• Authors : Díaz-Casado, Elena; Gómez-Nieto, Ricardo; de Pereda, José M.

• Source: PLoS ONE. March 13, 2020, Vol. 15 Issue 3, e0229953.

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Suppressing aberrant GluN3A expression rescues synaptic and behavioral impairments in Huntington's disease models.

• Authors : Marco, Sonia; Giralt, Albert; Petrovic, Milos M.

• Source: Nature Medicine. August 1, 2013, Vol. 19 Issue 8, p1030, 12 p.

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A tissue-specific, activation-inducible, lentiviral vector regulated by human CD40L proximal promoter sequences.

• Authors : Romero, Z.; Torres, S.; Cobo, M.

• Source: Gene Therapy. April 1, 2011, Vol. 18 Issue 4, p364, 8 p.

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Physiological and tissue-specific vectors for treatment of inherited diseases.

• Authors : Toscano, M.G.; Romero, Z.; Munoz, P.

• Source: Gene Therapy. February 1, 2011, Vol. 18 Issue 2, p117, 11 p.

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