Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome

Authors:	Nuria?Andreu,Carmen?Carreras,Félix?Prieto,Xavier?Estivill,Victor?Volpini,Cristina?Fillat author-information" > author-information__contact u-icon-before" > mailto:cristina.fillat@crg.es" title=" cristina.fillat@crg.es" itemprop=" email" data-track=" click" data-track-action=" Email author" data-track-label=" " >Email author

Affiliation:	(1) Programa Gens i Malaltia, Centre de Regulació Genòmica, 37-49 Passeig Marítim, 08003 Barcelona, Spain;(2) Unidad de Hematología Infantil, Hospital Universitari La Fe, Valencia, Spain;(3) Unidad de Genética, Hospital Universitari La Fe, Valencia, Spain;(4) Universitat Pompeu Fabra, Barcelona, Spain;(5) Centre de Genètica Mèdica i Molecular-IRO, LHospitalet de Llobregat, Barcelona, Spain

Abstract:

Keywords:	Wiskott-Aldrich syndrome Splice-site mutation Molecular analysis Expression studies
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