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Jin, Y., Mazza, C., Christie, J.R., et al. (2004) Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): Hotspots, Effect on Transcription, and Translation and Phenotype/Genotype Correlation. Blood, 104, 4010-4019.
https://doi.org/10.1182/blood-2003-05-1592

has been cited by the following article:

• TITLE: Clinical and Molecular Characters of a Yemeni Child with Wiskott-Aldrich Syndrome

  AUTHORS: Saeed Thabet, Abdulgafoor Kassim, Nabil Al-Jomaai, Ramea Alathwary, Saddam Alhalemi

  KEYWORDS: Wiskott-Aldrich, Microthrombocytopenia, Eczema, Yemen

  JOURNAL NAME: Open Access Library Journal, Vol.6 No.3, March 20, 2019

  ABSTRACT: Wiskott-Aldrich Syndrome is an x-linked immunodeficiency condition charac-terized by microthrombocytopenia, eczema and recurrent infections. It is caused by mutations in the Wiskott Aldrich Protein (WASP) gene. Hereby we report a 13-month-old Yemeni male infant with mutation in WASP Gene, who presented with congenital microthrombocytopenia, eczema, bleeding tendency and recurrent infections. The variant found in this case creates a shift in the reading frame located in the exon 10 of WAS gene. These variants were also detected in the child’s mother in heterozygous state.