Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea

Annals of Hematology

Volumn 92, Issue 3, 2013, Pages 357-364

  Seo, Ja Young ^a   Song, Joon Sup ^b   Lee, Ki O ^c   Won, Hong Hee ^c   Kim, Jong Won ^a   Kim, Sun Hee ^a   Lee, Soo Hyun ^a   Yoo, Keon Hee ^a   Sung, Ki Woong ^a   Koo, Hong Hoe ^a   Kang, Hyoung Jin ^d   Shin, Hee Young ^d   Ahn, Hyo Seop ^d   Han, Dong Kyun ^e   Kook, Hoon ^e   Hwang, Tai Ju ^e   Lyu, Chuhl Joo ^f   Lee, Mi Jung ^g   Kim, Ji Yoon ^h   Park, Sung Shik ⁱ   Lim, Young Tak ^j   Kim, Bo Eun ^k   Koh, Kyung Nam ^k   Im, Ho Joon ^k   Seo, Jong Jin ^k   Kim, Hee Jin ^a   more..

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Hallym University College of Medicine   (South Korea)

^c Samsung Medical Center   (South Korea)

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

^e Chonnam National University   (South Korea)

^f Yonsei University College of Medicine   (South Korea)

^g Dankook University   (South Korea)

^h Chungbuk National University Hospital   (South Korea)

ⁱ Pusan National University Yangsan Hospital   (South Korea)

^j Pusan National University Hospital   (South Korea)

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

more..

Author keywords

Familial; FHL3; Founder effect; Hemophagocytic lymphohistiocytosis; Korea; UNC13D

Indexed keywords

ADULT; ALLELE; ARTICLE; CHILD; CHROMOSOME INVERSION; CONTROLLED STUDY; FAMILIAL HEMOPHAGOCYTIC SYNDROME TYPE 3; FEMALE; FRAMESHIFT MUTATION; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE SEQUENCE; GENETIC MARKER; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HEMOPHAGOCYTIC SYNDROME; HETEROZYGOTE; HUMAN; INFANT; INTRON; KOREA; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMORPHIC LOCUS; PRF1 GENE; PRIORITY JOURNAL; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; UNC13D GENE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HUMANS; INFANT; INTRONS; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MEMBRANE PROTEINS; MUTATION; REPUBLIC OF KOREA;

EID: 84873991520     PISSN: 09395555     EISSN: 14320584     Source Type: Journal    
DOI: 10.1007/s00277-012-1628-6     Document Type: Article

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