TY  - GEN
AU  - Sultanova,Ardak K
AU  - Kim,Seong-koo
AU  - Lee,Jae Wook
AU  - Jang,Pil-Sang
AU  - Chung,Nack-Gyun
AU  - Cho,Bin
AU  - Park,Joonhong
AU  - Kim,Yonggoo
AU  - Kim,Myungshin
TI  - A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis
SN  - 2234-3814
PY  - 2017///0109
KW  - Alleles
KW  - Amino Acid Sequence
KW  - Asian People
KW  - genetics
KW  - Base Sequence
KW  - Bone Marrow
KW  - metabolism
KW  - Child, Preschool
KW  - Comparative Genomic Hybridization
KW  - DNA Mutational Analysis
KW  - Genotype
KW  - Haplotypes
KW  - Homozygote
KW  - Humans
KW  - Lymphohistiocytosis, Hemophagocytic
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Pedigree
KW  - Qa-SNARE Proteins
KW  - Republic of Korea
KW  - Sequence Alignment
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.3343/alm.2016.36.2.170
ER  -