ClinVar database of global familial hypercholesterolemia-associated DNA variants

MA Iacocca; JR Chora; A Carrie; T Freiberger; SE Leigh; JC Defesche; CL Kurtz; MT DiStefano; RD Santos; SE Humphries; P Mata; CE Jannes; AJ Hooper; KA Wilemon; P Benlian; R O'Connor; J Garcia; H Wand; L Tichy; E.J.G. Sijbrands; RA Hegele; M Bourbon; JW Knowles

doi:10.1002/humu.23634

ClinVar database of global familial hypercholesterolemia-associated DNA variants

MA Iacocca, JR Chora, A Carrie, T Freiberger, SE Leigh, JC Defesche, CL Kurtz, MT DiStefano, RD Santos, SE Humphries, P Mata, CE Jannes, AJ Hooper, KA Wilemon, P Benlian, R O'Connor, J Garcia, H Wand, L Tichy, E.J.G. SijbrandsRA Hegele, M Bourbon, JW Knowles

Internal Medicine

Research output: Contribution to journal › Article › Academic › peer-review

92 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	1631-1640
Number of pages	10
Journal	Human Mutation
Volume	39
Issue number	11
DOIs	https://doi.org/10.1002/humu.23634
Publication status	Published - 2018

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EMC COEUR-09-39-01

Access to Document

10.1002/humu.23634

http://hdl.handle.net/1765/111076

Cite this

Iacocca, MA., Chora, JR., Carrie, A., Freiberger, T., Leigh, SE., Defesche, JC., Kurtz, CL., DiStefano, MT., Santos, RD., Humphries, SE., Mata, P., Jannes, CE., Hooper, AJ., Wilemon, KA., Benlian, P., O'Connor, R., Garcia, J., Wand, H., Tichy, L., ... Knowles, JW. (2018). ClinVar database of global familial hypercholesterolemia-associated DNA variants. Human Mutation, 39(11), 1631-1640. https://doi.org/10.1002/humu.23634

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author = "MA Iacocca and JR Chora and A Carrie and T Freiberger and SE Leigh and JC Defesche and CL Kurtz and MT DiStefano and RD Santos and SE Humphries and P Mata and CE Jannes and AJ Hooper and KA Wilemon and P Benlian and R O'Connor and J Garcia and H Wand and L Tichy and E.J.G. Sijbrands and RA Hegele and M Bourbon and JW Knowles",

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doi = "10.1002/humu.23634",

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Iacocca, MA, Chora, JR, Carrie, A, Freiberger, T, Leigh, SE, Defesche, JC, Kurtz, CL, DiStefano, MT, Santos, RD, Humphries, SE, Mata, P, Jannes, CE, Hooper, AJ, Wilemon, KA, Benlian, P, O'Connor, R, Garcia, J, Wand, H, Tichy, L, Sijbrands, EJG, Hegele, RA, Bourbon, M & Knowles, JW 2018, 'ClinVar database of global familial hypercholesterolemia-associated DNA variants', Human Mutation, vol. 39, no. 11, pp. 1631-1640. https://doi.org/10.1002/humu.23634

TY - JOUR

T1 - ClinVar database of global familial hypercholesterolemia-associated DNA variants

AU - Iacocca, MA

AU - Chora, JR

AU - Carrie, A

AU - Freiberger, T

AU - Leigh, SE

AU - Defesche, JC

AU - Kurtz, CL

AU - DiStefano, MT

AU - Santos, RD

AU - Humphries, SE

AU - Mata, P

AU - Jannes, CE

AU - Hooper, AJ

AU - Wilemon, KA

AU - Benlian, P

AU - O'Connor, R

AU - Garcia, J

AU - Wand, H

AU - Tichy, L

AU - Sijbrands, E.J.G.

AU - Hegele, RA

AU - Bourbon, M

AU - Knowles, JW

PY - 2018

Y1 - 2018

U2 - 10.1002/humu.23634

DO - 10.1002/humu.23634

M3 - Article

C2 - 30311388

SN - 1059-7794

VL - 39

SP - 1631

EP - 1640

JO - Human Mutation

JF - Human Mutation

IS - 11

ER -