Mutation in LDL Receptor: Alu-Alu Recombination Deletes Exons Encoding Transmembrane and Cytoplasmic Domains
Author:
Affiliation:
1. Department of Molecular Genetics, University of Texas Health Science Center at Dallas, Southwestern Medical School, Dallas 75235.
Publisher
American Association for the Advancement of Science (AAAS)
Subject
Multidisciplinary
Reference33 articles.
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2. BILHEIMER, D.W., GENETICS OF LOW-DENSITY LIPOPROTEIN RECEPTOR - DIMINISHED RECEPTOR ACTIVITY IN LYMPHOCYTES FROM HETEROZYGOTES WITH FAMILIAL HYPERCHOLESTEROLEMIA, JOURNAL OF CLINICAL INVESTIGATION 61: 678 (1978).
3. Blobel, G., Proceedings of the National Academy of Sciences of the United States of America 77: 1496 (1980).
4. BROWN, M.S., ANALYSIS OF A MUTANT STRAIN OF HUMAN FIBROBLASTS WITH A DEFECT IN INTERNALIZATION OF RECEPTOR-BOUND LOW-DENSITY LIPOPROTEIN, CELL 9: 663 (1976).
5. Genomic sequencing.
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