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Важнейшие обзоры и оригинальные статьи
по семейной гиперхолестеринемии в иностранной литературе:
( в алфавитном порядке.)
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Blacklow S.C., Kim P.S. Protein folding and calcium
binding defects arising from familial hypercholesterolemia mutations of
the LDL receptor// Nature Structural Biol. – 1996. – Vol.3, N 9. –
P.758-762.
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Brown M.S., Goldstein J.L. A receptor-mediated
pathway for cholesterol homeostasis// Science. – 1986. – Vol. 232, N
4746. – P. 34-47.
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Brown M.S., Goldstein J.L. The SREBP pathway:
regulation of cholesterol metabolism by proteolysis of a membrane-bond
transcription factor//Cell. – 1997. – Vol. 89. – P. 331-340.
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Brown M.S., Herz J., Goldstein J.L. Calcium cages,
acid baths and recycling receptors // Nature. – 1997. – Vol. 388, N
6643. – P. 629–630.
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Dedoussis G.V.Z., Schmidt H., Genschel J.
LDL-receptor mutations in Europe // Hum. Mutat. – 2004. – Vol. 24. – P.
443 – 459.
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Fass D., Blacklow S., Kim P.S., Berger J.M. Molecular
basis of familial hypercholesterolaemia from structure of LDL receptor
module // Nature. – 1997. – Vol. 388, N 6643. – P. 691 – 693.
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Goldstein J.L., Brown M.S. The LDL receptor and the
regulation of cellular cholesterol metabolism// J.Cell.Sci. – 1985. –
Suppl. N 3. – P. 131-137.
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Goldstein J.L., Brown M.S. Regulation of the
mevalonate pathway// Nature. – 1990. – Vol. 343. – P.425-30.
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Goldstein J.L., Brown M.S. Molecular medicine. The
cholesterol quartet // Science. – 2001. – Vol. 292. – P. 1310 – 1312.
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Hobbs H.H., Brown M.S., Goldstein J.L. Molecular
genetics of the LDL receptor gene in familial hypercholesterolemia//
Human Mutation. – 1992. – Vol.1. - P. 445-466.
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Horton J.D., Goldstein J.L., Brown M.S. SREBPs:
activators of the complete program of cholesterol and fatty acid
synthesis in the liver // J. Clin. Invest. – 2002. – Vol. 109, N 9. – P.
1125 – 1131.
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Rudenko G., Deisenhofer J. The low-density
lipoprotein receptor: ligands, debates and lore // Curr. Opin. Struct.
Biol. – 2003. – Vol. 13. – P. 683 – 689.
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Rudenko G., Henry L., Henderson K., Ichtchenko K.,
Brown M.S., Goldstein J.L., Deisenhofer J. Structure of the LDL receptor
extracellular domain at endosomal pH // Science. – 2002. – Vol. 298. –
P. 2353 – 2358.
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Sudhof T.C., Goldstein J.L., Brown M.S., Russell D.W.
The LDL receptor gene: a mosaic of exons shared with different proteins//
Science. – 1985. – Vol. 85, N 228. – P. 815-822.
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Varret M., Rabes J.-P., Collod-Beroud G., Junien C.,
Boileau C., Beroud C. Software and database for the analysis of
mutations in the human LDL receptor gene// Nucl. Acids Res. – 1997. –
Vol. 25. – P. 172-180.
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Wilson D.J., Gahan M., Haddad L., Heath K., Whittall
R.A., Williams R.R., Humphries S.E., Day I.N.M. A World Wide Web site
for low-density lipoprotein receptor gene mutations in familial
hypercholesterolemia: sequence-based, tabular, and direct submission
data handling // Am. J. Cardiol. – 1998. – Vol. 81. – P. 1509 – 1511.
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Yamamoto T., Davis C.G., Brown M.S., Schneider W.J.,
Casey M.L., Goldstein J.L., Russell D.W. The human LDL receptor: a
cysteine-rich protein with multiple Alu sequences in its mRNA// Cell -
1984. - Vol. 39. - P. 27-38.
Вся библиография:
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Важнейшие обзоры и
оригинальные статьи по СГ на английском языке: в алфавитном порядке.
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Обзоры по генетике СГ
российских авторов.
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Статьи по генетике СГ в
России (на русском и английском): в хронологическом порядке
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Отдельные руководства по
дислипидемиям, включая СГ, и их лечению; популярная литература по СГ
(преимущественно на русском языке): в алфавитном порядке.

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