UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis

Haematologica

Volumn 95, Issue 4, 2010, Pages 622-626

  Yoon, Hoi Soo ^a   Kim, Hee Jin ^b   Yoo, Keon Hee ^b   Sung, Ki Woong ^b   Koo, Hong Hoe ^b   Kang, Hyoung Jin ^c   Shin, Hee Young ^c   Ahn, Hyo Seop ^c   Kim, Ji Yoon ^d   Lim, Young Tak ^e   Bae, Keun Wook ^a   Lee, Ki O ^f   Shin, Ji Sook ^f   Lee, Seung Tae ^b   Chung, Hae Sun ^b   Kim, Sun Hee ^b   Park, Chan Jeoung ^a   Chi, Hyun Sook ^a   Im, Ho Joon ^a   Seo, Jong Jin ^a  

^a University of Ulsan College of Medicine   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

^c Seoul National University College of Medicine   (South Korea)

^d Chungbuk National University Hospital   (South Korea)

^e Pusan National University Hospital   (South Korea)

^f Samsung Medical Center   (South Korea)

Author keywords

Familial; FHL; Genetics; Hemophagocytic histiocytosis; Korea; UNC13D

Indexed keywords

MEMBRANE PROTEIN; PERFORIN; PROTEIN PRF1; PROTEIN UNC13D; SYNTAXIN; SYNTAXIN 11; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; INFANT; KOREA; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; RISK FACTOR;

ADOLESCENT; ALTERNATIVE SPLICING; CHILD; CHILD, PRESCHOOL; DNA; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; KOREA; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MEMBRANE PROTEINS; MUTATION; PORE FORMING CYTOTOXIC PROTEINS; PROGNOSIS; QA-SNARE PROTEINS; RECURRENCE;

EID: 77950685155     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.016949     Document Type: Article

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