Variants in chondroitin sulfate metabolism genes in thrombotic storm.

Karen Nuytemans,Thomas L Ortel,Lissette Gomez,Natalia Hofmann,Natalie Alves,Nicole Dueker,Ashley Beecham,Patrice Whitehead, Susan Hahn Estabrooks,Craig S Kitchens,Doruk Erkan,Leonardo R Brandão,Andra H James,Roshni Kulkarni,Marilyn J Manco-Johnson,Margaret A Pericak-Vance,Jeffery M Vance

Thrombosis Research（2018）

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摘要

•Underlying hypercoagulability due to rare, functional genetic variants is proposed.•No large contribution of known thrombotic genes•Identification of rare functional variant accumulation in chondroitin sulfate genes•Proposed aberrant glycocalyx function due to reduced chondroitin sulfate presence

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关键词

TS,CS,APS,aPL,TM,PROC,PROS1,PLG,PLAT,WES,CGT,HIHG,GATK,AD,KNG1,FV,1kGP,CADD,MAF,SLC26A2,CHPF2,PAPSS2,DS,STAB2,HMWK,CHPF,CHSY1,CHSY3,CSGALNACT1,CSGALNACT2,CHST15,CHST12,CHST3,CHST11,CHST13

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