Genetic testing of Korean Familial hypercholesterolemia using whole-exome sequencing

PLoS ONE

Volumn 10, Issue 5, 2015, Pages

  Han, Soo Min ^a   Hwang, Byungjin ^b   Park, Tae Gun ^b   Kim, Do Il ^c   Rhee, Moo Yong ^d   Lee, Byoung Kwon ^b   Ahn, Young Keun ^e   Cho, Byung Ryul ^f   Woo, Jeongtaek ^g   Hur, Seung Ho ^h   Jeong, Jin Ok ⁱ   Park, Sungha ^j,k   Jang, Yangsoo ^j,k   Lee, Min Goo ^a   Bang, Duhee ^b   Lee, Ji Hyun ^l   Lee, Sang Hak ^j,k  

^a Yonsei University College of Medicine   (South Korea)

^b Yonsei University   (South Korea)

^c Inje University   (South Korea)

^d Dongguk University Ilsan Hospital   (South Korea)

^e Chonnam National University   (South Korea)

^f Kangwon National University   (South Korea)

^g Kyung Hee University   (South Korea)

^h Keimyung University   (South Korea)

ⁱ Chungnam National University College of Medicine   (South Korea)

^j Yonsei University College of Medicine   (South Korea)

^k Yonsei University College of Medicine   (South Korea)

^l Yonsei University College of Dentistry   (South Korea)

more..

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR PROTEIN, HUMAN; PCSK9 PROTEIN, HUMAN; PROPROTEIN CONVERTASE 9; SERINE PROTEINASE;

ADULT; APOB GENE; ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE ACTIVITY; DISEASE MARKER; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENETIC SCREENING; HUMAN; LDLR GENE; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; PCSK9 GENE; SEQUENCE ANALYSIS; WHOLE EXOME SEQUENCING; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; GENETICS; HYPERCHOLESTEROLEMIA; MUTATION; PROCEDURES;

ADULT; AGED; APOLIPOPROTEINS B; ASIAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC TESTING; HUMANS; HYPERCHOLESTEROLEMIA; MALE; MIDDLE AGED; MUTATION; PROPROTEIN CONVERTASE 9; PROPROTEIN CONVERTASES; RECEPTORS, LDL; SERINE ENDOPEPTIDASES;

EID: 84930671700     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0126706     Document Type: Article

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