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10.1038/ng1161 http://scihub22266oqcxt.onion/10.1038/ng1161 12730697!ä!12730697 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Nat+Genet 2003 ; 34 (2): 154-6 Nephropedia Template TP {{tp|p=12730697|t=2003. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia |pdf=|usr=}}{{12730697}} gab.com Text Mutations in PCSK9 cause autosomal dominant hypercholesterolemia JO: Nat Genet http://www.kidney.de/pget.php?&tw=1&pmid=12730697 #FOAvip Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated with mutations in the genes LDLR (encoding low-density lipoprotein receptor) or APOB (encoding apolipoprotein B). We mapped a third locus associated with ADH, HCHOLA3 at 1p32, and now report two mutations in the gene PCSK9 (encoding proprotein convertase subtilisin/kexin type 9) that cause ADH. PCSK9 encodes NARC-1 (neural apoptosis regulated convertase), a newly identified human subtilase that is highly expressed in the liver and contributes to cholesterol homeostasis. Twit Text FOAVip Mutations in PCSK9 cause autosomal dominant hypercholesterolemia ????Nat Genet http://www.kidney.de/pget.php?&tw=1&pmid=12730697 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=12730697 #FOAvip English Wikipedia <ref>{{Cite pmid|12730697}}</ref> Mutations in PCSK9 cause autosomal dominant hypercholesterolemia #MMPMID12730697 Abifadel M; Varret M; Rabes JP; Allard D; Ouguerram K; Devillers M; Cruaud C; Benjannet S; Wickham L; Erlich D; Derre A; Villeger L; Farnier M; Beucler I; Bruckert E; Chambaz J; Chanu B; Lecerf JM; Luc G; Moulin P; Weissenbach J; Prat A; Krempf M; Junien C; Seidah NG; Boileau C Nat Genet 2003[Jun]; 34 (2): 154-6 PMID12730697show ga Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated with mutations in the genes LDLR (encoding low-density lipoprotein receptor) or APOB (encoding apolipoprotein B). We mapped a third locus associated with ADH, HCHOLA3 at 1p32, and now report two mutations in the gene PCSK9 (encoding proprotein convertase subtilisin/kexin type 9) that cause ADH. PCSK9 encodes NARC-1 (neural apoptosis regulated convertase), a newly identified human subtilase that is highly expressed in the liver and contributes to cholesterol homeostasis. |*Mutation[MESH] |Amino Acid Substitution[MESH] |Chromosomes, Human, Pair 1/genetics[MESH] |Female[MESH] |Genes, Dominant[MESH] |Genetic Linkage[MESH] |Humans[MESH] |Hyperlipoproteinemia Type II/enzymology/*genetics[MESH] |Liver/enzymology[MESH] |Male[MESH] |Pedigree[MESH] |Proprotein Convertase 9[MESH] |Proprotein Convertases[MESH]Mutations in PCSK9 cause autosomal dominant hypercholesterolemia (epmc).pdf DeepDyve Pubget Overpricing