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Academic Journal

21 years of Wiskott-Aldrich syndrome in Spain: incidence, mortality, and gender bias.

  • Authors : Guerrero Espejo A; Grupo de Investigación de Enfermedades Infecciosas, Faculty of Medicine and Dentistry, Catholic University of Valencia 'San Vicente Mártir', Valencia, Spain. Electronic address: .; Tomás Dols S

Subjects: Wiskott-Aldrich Syndrome*/Wiskott-Aldrich Syndrome*/Wiskott-Aldrich Syndrome*/diagnosis; Humans ; Male

  • Source: Revista clinica espanola [Rev Clin Esp (Barc)] 2023 May; Vol. 223 (5), pp. 262-269. Date of Electronic Publication: 2023 Mar 25.Publisher: Elsevier España Country of Publication: Spain NLM ID: 101632437 Publication Model: Print-Electronic Cited

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Academic Journal

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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Academic Journal

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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  • 1-10 of  30 results for ""WISKOTT-Aldrich syndrome""