Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array

Haematologica

Volumn 97, Issue 2, 2012, Pages 304-309

  Kim, Hee Jin ^a   Kim, Duk Kyung ^a   Yoo, Ki Young ^b   You, Chur Woo ^c   Yoo, Jong Ha ^d   Lee, Ki O ^e   Park, In Ae ^e   Choung, Hae Sun ^a   Kim, Hee Jung ^a   Song, Min Jung ^a   Kim, Sun Hee ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Korea Hemophilia Foundation Clinic   (South Korea)

^c Eulji University School of Medicine   (South Korea)

^d National Health Insurance Corporation   (South Korea)

^e Samsung Medical Center   (South Korea)

Author keywords

Coagulation; Contiguous gene deletion; Copy number; Hemophilia; Mutation; Single nucleotide polymorphism array; Thrombophilia

Indexed keywords

ARTICLE; BLOOD CLOTTING DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE PRODUCT; GENETIC HETEROGENEITY; HEMOPHILIA A; HEMOPHILIA B; HUMAN; MALE; PROS1 GENE; RC3H1 GENE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOPHILIA;

ADULT; BLOOD COAGULATION DISORDERS, INHERITED; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC HETEROGENEITY; GENOME, HUMAN; HUMANS; MALE; MIDDLE AGED; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 84863071847     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2011.052324     Document Type: Article

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