A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect.
about
Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptorGenotyping of geographically diverse Druze trios reveals substructure and a recent bottleneck.PCSK9 - A New and Potent Approach to Lowering Cholesterol.The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.Software and database for the analysis of mutations in the human LDL receptor gene.
P2860
A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect.
description
1992 nî lūn-bûn
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1992年の論文
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1992年学术文章
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name
A nonsense mutation in the LDL ...... esterolemia in the Druze sect.
@en
type
label
A nonsense mutation in the LDL ...... esterolemia in the Druze sect.
@en
prefLabel
A nonsense mutation in the LDL ...... esterolemia in the Druze sect.
@en
P2093
P2860
P1476
A nonsense mutation in the LDL ...... esterolemia in the Druze sect.
@en
P2093
Coetzee GA
Landsberger D
Leitersdorf E
van der Westhuyzen DR
P2860
P304
P407
P577
1992-02-01T00:00:00Z