Associated Papers
Clinical and genetic analysis of macrophage activation syndrome complicating juvenile idiopathic inflammatory myopathies.
Li G et al.
Pediatric Research, 2025
Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.
Song Y et al.
Bmc Medical Genetics, 2020
Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report.
Hu X et al.
Bmc Medical Genetics, 2018
Novel mutations in the UNC13D gene carried by a Chinese neonate with hemophagocytic lymphohistiocytosis.
Chen Y et al.
Yonsei Medical Journal, 2013
Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea.
Seo JY et al.
Annals of Hematology, 2013
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