cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome
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DOI: 10.3389/fgene.2023.1072784
Abstract: Introduction: Chediak-Higashi syndrome (CHS) is rare autosomal recessive disorder caused by bi-allelic variants in the Lysosomal Trafficking Regulator (LYST) gene. Diagnosis is established by the detection of pathogenic variants in LYST in combination with clinical… read more here.
Keywords: molecular diagnostic; cdna sequencing; sanger sequencing; sanger ... See more keywords