The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein

Research output: Contribution to journalArticle

528 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)133-170
Number of pages38
JournalAnnual Review of Genetics
Volume24
Issue number1
StatePublished - 1990

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DNA Mutational Analysis
Lipoprotein Receptors
Hyperlipoproteinemia Type II
LDL Receptors
Medical Genetics
Multigene Family
Genetic Recombination
Membrane Proteins
Mutation

Keywords

  • Alu elements - Repetitive elements
  • Cholesterol metabolism
  • Exon shuffling
  • Human biochemical genetics
  • LDL receptor mutations
  • Lipoprotein receptors
  • Recombination

ASJC Scopus subject areas

  • Genetics

Cite this

@article{aab8cac494854de68baf913de2e84285,
title = "The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein",
keywords = "Alu elements - Repetitive elements, Cholesterol metabolism, Exon shuffling, Human biochemical genetics, LDL receptor mutations, Lipoprotein receptors, Recombination",
author = "Hobbs, {Helen H.} and Russell, {David W.} and Brown, {Michael S.} and Goldstein, {Joseph L.}",
year = "1990",
language = "English (US)",
volume = "24",
pages = "133--170",
journal = "Annual Review of Genetics",
issn = "0066-4197",
publisher = "Annual Reviews Inc.",
number = "1",

}

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AU - Russell, David W.

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AU - Goldstein, Joseph L.

PY - 1990

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KW - Cholesterol metabolism

KW - Exon shuffling

KW - Human biochemical genetics

KW - LDL receptor mutations

KW - Lipoprotein receptors

KW - Recombination

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VL - 24

SP - 133

EP - 170

JO - Annual Review of Genetics

JF - Annual Review of Genetics

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