A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis. [electronic resource]
Producer: 20170109Description: 170-3 p. digitalISSN:- 2234-3814
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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