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Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.
Ries S, Büchler C, Schindler G, Aslanidis C, Ameis D, Gasche C, Jung N, Schambach A, Fehringer P, Vanier MT, Belli DC, Greten H, Schmitz G. Ries S, et al. Among authors: buchler c. Hum Mutat. 1998;12(1):44-51. doi: 10.1002/(SICI)1098-1004(1998)12:1<44::AID-HUMU7>3.0.CO;2-O. Hum Mutat. 1998. PMID: 9633819
The human apM-1, an adipocyte-specific gene linked to the family of TNF's and to genes expressed in activated T cells, is mapped to chromosome 1q21.3-q23, a susceptibility locus identified for familial combined hyperlipidaemia (FCH).
Schäffler A, Orsó E, Palitzsch KD, Büchler C, Drobnik W, Fürst A, Schölmerich J, Schmitz G. Schäffler A, et al. Among authors: buchler c. Biochem Biophys Res Commun. 1999 Jul 5;260(2):416-25. doi: 10.1006/bbrc.1999.0865. Biochem Biophys Res Commun. 1999. PMID: 10403784
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.
Bodzioch M, Orsó E, Klucken J, Langmann T, Böttcher A, Diederich W, Drobnik W, Barlage S, Büchler C, Porsch-Ozcürümez M, Kaminski WE, Hahmann HW, Oette K, Rothe G, Aslanidis C, Lackner KJ, Schmitz G. Bodzioch M, et al. Among authors: buchler c. Nat Genet. 1999 Aug;22(4):347-51. doi: 10.1038/11914. Nat Genet. 1999. PMID: 10431237
39 results