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All Library Books, journals and Electronic Records Telegrafenberg

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A novel LDLR mutation, H190Y, in a Utah kindred with familial Hypercholesterolemia (1999)

Hopkins, P. N. ; Wu, L. L. ; Stephenson, S. H. ; [et al.]

Springer Nature

In: Journal of Human Genetics. 1999; 44(6): 364-367. Published 1999 Oct 01. doi: 10.1007/s100380050179.

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Publication Date: 1999-10-01

Print ISSN: 1434-5161

Electronic ISSN: 1435-232X

Topics: Biology , Medicine

Published by Springer Nature

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Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred (2002)

Takada, D. ; Emi, M. ; Ezura, Y. ; [et al.]

Springer Nature

In: Journal of Human Genetics. 2002; 47(12): 0656-0664. Published 2002 Dec 01. doi: 10.1007/s100380200101.

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Publication Date: 2002-12-01

Print ISSN: 1434-5161

Electronic ISSN: 1435-232X

Topics: Biology , Medicine

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Co-segregation of elevated LDL with a novel mutation (D92K) of the LDL receptor in a kindred with multiple lipoprotein abnormalities (2000)

Wu, L. L. ; Hopkins, P. N. ; Xin, Y. ; [et al.]

Springer Nature

In: Journal of Human Genetics. 2000; 45(3): 154-158. Published 2000 May 01. doi: 10.1007/s100380050202.

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Publication Date: 2000-05-01

Print ISSN: 1434-5161

Electronic ISSN: 1435-232X

Topics: Biology , Medicine

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Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred (2003)

Sato, Keiko ; Emi, Mitsuru ; Ezura, Yoichi ; [et al.]

Springer Nature

In: Journal of Human Genetics. 2003; 49(1): 29-34. Published 2003 Dec 13. doi: 10.1007/s10038-003-0103-6.

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Publication Date: 2003-12-13

Print ISSN: 1434-5161

Electronic ISSN: 1435-232X

Topics: Biology , Medicine

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