January 1, 1986Cold Spring Harbor Symposia on Quantitative Biology
The LDL Receptor in Familial Hypercholesterolemia: Use of Human Mutations to Dissect a Membrane Protein
Population
Patients with Familial Hypercholesterolemia (FH) and human mutations in the LDL receptor gene
Design
Review
Authors
Discussion
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Implication
May inform FH genetic testing for Alu deletions; leaves open domain-targeted therapies pending functional validation.
Structured PICO
P
Population
Patients with Familial Hypercholesterolemia (FH) and human mutations in the LDL receptor gene
Analysis of human mutations in the LDL receptor gene in familial hypercholesterolemia elucidates the protein's structural domains and the role of repetitive DNAs in gene destabilization.
Cite This Study
Russell et al. (1986) studied this question.