The Finnish type of the LDL receptor gene mutation: molecular characterization of the deleted gene and the corresponding mRNA (Q68434690)

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24 September 2019

title

The Finnish type of the LDL receptor gene mutation: molecular characterization of the deleted gene and the corresponding mRNA (English)

1 reference

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24 September 2019

author name string

Aalto-Setälä K

series ordinal

1

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24 September 2019

language of work or name

English

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publication date

1 July 1988

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24 September 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3391282%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

volume

234

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24 September 2019

issue

2

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24 September 2019

page(s)

411-416

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A receptor-mediated pathway for cholesterol homeostasis

24 September 2019

cites work

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

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

21 January 2018

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Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

21 January 2018

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Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia

21 January 2018

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

21 January 2018

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Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia

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New variant of low density lipoprotein receptor gene. FH-Tonami

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Identification of a deletion in the LDL receptor gene. A Finnish type of mutation

21 January 2018

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pBR322 restriction map derived from the DNA sequence: accurate DNA size markers up to 4361 nucleotide pairs long

21 January 2018

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The purification of poly(a)-containing RNA by affinity chromatography

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The metabolism in vitro of human low-density lipoprotein by the human hepatoma cell line Hep G2

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A RFLP associated with the low-density lipoprotein receptor gene (LDLR).

21 January 2018

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10.1016/0014-5793(88)80127-3

21 January 2018

Identifiers

DOI

1 reference

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24 September 2019

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