A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis. [electronic resource]
- Annals of laboratory medicine Mar 2016
- 170-3 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
2234-3814
10.3343/alm.2016.36.2.170 doi
Alleles Amino Acid Sequence Asian People--genetics Base Sequence Bone Marrow--metabolism Child, Preschool Comparative Genomic Hybridization DNA Mutational Analysis Genotype Haplotypes Homozygote Humans Lymphohistiocytosis, Hemophagocytic--genetics Male Molecular Sequence Data Mutation, Missense Pedigree Qa-SNARE Proteins--genetics Republic of Korea Sequence Alignment