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Year | Number of Results |
---|---|
1999 | 2 |
2000 | 1 |
2003 | 1 |
2004 | 1 |
2005 | 1 |
2024 | 0 |
PubMed (cited) for id: 603776
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Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.
Nat Genet. 2005 Feb;37(2):161-5. doi: 10.1038/ng1509. Epub 2005 Jan 16.
Nat Genet. 2005.
PMID: 15654334
A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree.
Timms KM, Wagner S, Samuels ME, Forbey K, Goldfine H, Jammulapati S, Skolnick MH, Hopkins PN, Hunt SC, Shattuck DM.
Timms KM, et al.
Hum Genet. 2004 Mar;114(4):349-53. doi: 10.1007/s00439-003-1071-9. Epub 2004 Jan 15.
Hum Genet. 2004.
PMID: 14727179
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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
Abifadel M, Varret M, Rabès JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derré A, Villéger 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.
Abifadel M, et al.
Nat Genet. 2003 Jun;34(2):154-6. doi: 10.1038/ng1161.
Nat Genet. 2003.
PMID: 12730697
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Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred.
Hunt SC, Hopkins PN, Bulka K, McDermott MT, Thorne TL, Wardell BB, Bowen BR, Ballinger DG, Skolnick MH, Samuels ME.
Hunt SC, et al.
Arterioscler Thromb Vasc Biol. 2000 Apr;20(4):1089-93. doi: 10.1161/01.atv.20.4.1089.
Arterioscler Thromb Vasc Biol. 2000.
PMID: 10764678
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Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred.
Haddad L, Day IN, Hunt S, Williams RR, Humphries SE, Hopkins PN.
Haddad L, et al.
J Lipid Res. 1999 Jun;40(6):1113-22.
J Lipid Res. 1999.
PMID: 10357843
Free article.
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A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.
Varret M, Rabès JP, Saint-Jore B, Cenarro A, Marinoni JC, Civeira F, Devillers M, Krempf M, Coulon M, Thiart R, Kotze MJ, Schmidt H, Buzzi JC, Kostner GM, Bertolini S, Pocovi M, Rosa A, Farnier M, Martinez M, Junien C, Boileau C.
Varret M, et al.
Am J Hum Genet. 1999 May;64(5):1378-87. doi: 10.1086/302370.
Am J Hum Genet. 1999.
PMID: 10205269
Free PMC article.
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