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familial tangier disease相关文献:
Tangier Disease.
Burnett JR, Hooper AJ, McCormick SPA, Hegele RA.
2019 Nov 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:31751110
[Tangier disease in family with the phenotype of familial hypercholesterolemia].
Urbánek R, Tichý L, Freiberger T.
Vnitr Lek. 2020 Fall;66(7):443-446.
PMID:33380124
ABC Family Transporters.
Liu X.
Adv Exp Med Biol. 2019;1141:13-100. doi: 10.1007/978-981-13-7647-4_2.
PMID:31571164
Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency.
Hayden MR, Clee SM, Brooks-Wilson A, Genest J Jr, Attie A, Kastelein JJ.
Curr Opin Lipidol. 2000 Apr;11(2):117-22. doi: 10.1097/00041433-200004000-00003.
PMID:10787172
Tangier disease and ABCA1.
Oram JF.
Biochim Biophys Acta. 2000 Dec 15;1529(1-3):321-30. doi: 10.1016/s1388-1981(00)00157-8.
PMID:11111099
A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family.
Maranghi M, Truglio G, Gallo A, Grieco E, Verrienti A, Montali A, Gallo P, Alesini F, Arca M, Lucarelli M.
Biochem Biophys Res Commun. 2019 Jan 8;508(2):487-493. doi: 10.1016/j.bbrc.2018.11.064. Epub 2018 Nov 30.
PMID:30503498
Orphan Peripheral Neuropathies.
Finsterer J, Löscher WN, Wanschitz J, Iglseder S.
J Neuromuscul Dis. 2021;8(1):1-23. doi: 10.3233/JND-200518.
PMID:32986679
HDL genetic defects.
Nair DR, Nair A, Jain A.
Curr Pharm Des. 2014;20(40):6230-7. doi: 10.2174/1381612820666140620122412.
PMID:24953397
[Tangier disease].
Saku K, Jimi S, Ohta T, Arakawa K.
Nihon Rinsho. 1994 Dec;52(12):3236-40.
PMID:7853716
[Tangier disease (familial high density lipoprotein deficiency)].
Tsukamoto T, Ishida M.
Ryoikibetsu Shokogun Shirizu. 1998;(22 Pt 3):554-6.
PMID:9851216
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