A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis.

Sultanova, Ardak K

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