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Items: 11

1.

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C.

Am J Hum Genet. 2012 Oct 5;91(4):608-20. doi: 10.1016/j.ajhg.2012.08.007. Epub 2012 Sep 13.

2.

A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.

Buch S, Schafmayer C, Völzke H, Becker C, Franke A, von Eller-Eberstein H, Kluck C, Bässmann I, Brosch M, Lammert F, Miquel JF, Nervi F, Wittig M, Rosskopf D, Timm B, Höll C, Seeger M, ElSharawy A, Lu T, Egberts J, Fändrich F, Fölsch UR, Krawczak M, Schreiber S, Nürnberg P, Tepel J, Hampe J.

Nat Genet. 2007 Aug;39(8):995-9. Epub 2007 Jul 15.

PMID:
17632509
3.

Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.

Rees DC, Iolascon A, Carella M, O'marcaigh AS, Kendra JR, Jowitt SN, Wales JK, Vora A, Makris M, Manning N, Nicolaou A, Fisher J, Mann A, Machin SJ, Clayton PT, Gasparini P, Stewart GW.

Br J Haematol. 2005 Jul;130(2):297-309.

PMID:
16029460
4.

Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.

Solcà C, Stanga Z, Pandit B, Diem P, Greeve J, Patel SB.

Clin Genet. 2005 Aug;68(2):174-8.

5.

Disruption of cholesterol homeostasis by plant sterols.

Yang C, Yu L, Li W, Xu F, Cohen JC, Hobbs HH.

J Clin Invest. 2004 Sep;114(6):813-22.

6.

Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta.

Repa JJ, Berge KE, Pomajzl C, Richardson JA, Hobbs H, Mangelsdorf DJ.

J Biol Chem. 2002 May 24;277(21):18793-800. Epub 2002 Mar 18.

7.

Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

Lu K, Lee MH, Hazard S, Brooks-Wilson A, Hidaka H, Kojima H, Ose L, Stalenhoef AF, Mietinnen T, Bjorkhem I, Bruckert E, Pandya A, Brewer HB Jr, Salen G, Dean M, Srivastava A, Patel SB.

Am J Hum Genet. 2001 Aug;69(2):278-90. Epub 2001 Jul 9.

8.

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.

Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs HH.

Science. 2000 Dec 1;290(5497):1771-5.

9.

Hyperapobetalipoproteinaemia in two families with xanthomas and phytosterolaemia.

Kwiterovich PO Jr, Bachorik PS, Smith HH, McKusick VA, Connor WE, Teng B, Sniderman AD.

Lancet. 1981 Feb 28;1(8218):466-9.

PMID:
6110091
10.
11.

Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia.

Beaty TH, Kwiterovich PO Jr, Khoury MJ, White S, Bachorik PS, Smith HH, Teng B, Sniderman A.

Am J Hum Genet. 1986 Apr;38(4):492-504.

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