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Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome

Mendelian DisorderGenetic DisorderGeneticsPathogenesisInherited Metabolic DiseaseNovel MutationsPathologyMolecular GeneticsDisease Gene IdentificationGenomicsWiskott-aldrich SyndromeMedicineJapanese PatientsClinical Genetics