Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia (Q34191561)

31 July 2017

title

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia (English)

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31 July 2017

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2

J L Goldstein

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31 July 2017

M A Lehrman

1

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31 July 2017

D W Russell

series ordinal

3

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31 July 2017

M S Brown

series ordinal

4

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31 July 2017

language of work or name

English

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publication date

1 March 1987

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31 July 2017

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31 July 2017

volume

48

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31 July 2017

issue

5

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31 July 2017

page(s)

827-835

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The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA

31 July 2017

cites work

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Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain

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The LDL receptor gene: a mosaic of exons shared with different proteins

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Expression of wild-type and mutant forms of influenza hemagglutinin: the role of folding in intracellular transport

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A gene deletion ending at the midpoint of a repetitive DNA sequence in one form of hereditary persistence of fetal haemoglobin

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The deletion in a type of δ0-β0-thalassaemia begins in an inverted AluI repeat

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Lambda Charon vectors (Ch32, 33, 34 and 35) adapted for DNA cloning in recombination-deficient hosts

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Unexpected relationships between four large deletions in the human beta-globin gene cluster

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Genetics of the LDL receptor: Evidence that the mutations affecting binding and internalization are allelic

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Cassette of eight exons shared by genes for LDL receptor and EGF precursor

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Genes-in-pieces revisited.

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The LDL receptor locus in familial hypercholesterolemia: Multiple mutations disrupt transport and processing of a membrane receptor

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11 October 2022

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Familial hypercholesterolemia. Evidence for a newly recognized mutation determining increased fibroblast receptor affinity but decreased capacity for low density lipoprotein in two siblings

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11 October 2022

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Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

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11 October 2022

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Base sequence studies of 300 nucleotide renatured repeated human DNA clones

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The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors

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Deletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit

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The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

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Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia

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11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0092-8674(87)90079-1

Identifiers

DOI

10.1016/0092-8674(87)90079-1

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31 July 2017

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