(Q28298010)

English

A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase

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scholarly article

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A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase (English)

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abetalipoproteinemia

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based on heuristic

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author name string

E F Rehberg

1

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M E Samson-Bouma

2

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B Kienzle

3

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L Blinderman

4

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H Jamil

5

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J R Wetterau

6

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L P Aggerbeck

7

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D A Gordon

8

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language of work or name

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publication date

22 November 1996

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Journal of Biological Chemistry

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271

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29945-52

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47

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Sequence of protein disulphide isomerase and implications of its relationship to thioredoxin.

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https://api.crossref.org/works/10.1074%2FJBC.271.47.29945

21 January 2018

Localization of intracellular triacylglycerol and cholesteryl ester transfer activity in rat tissues

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.47.29945

21 January 2018

Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia

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https://api.crossref.org/works/10.1074%2FJBC.271.47.29945

21 January 2018

Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.47.29945

21 January 2018

Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.47.29945

21 January 2018

A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.47.29945

21 January 2018

Secretion of apolipoprotein B-containing lipoproteins from HeLa cells is dependent on expression of the microsomal triglyceride transfer protein and is regulated by lipid availability

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.47.29945

21 January 2018

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.47.29945

21 January 2018

Simple and efficient oligonucleotide-directed mutagenesis using one primer and circular plasmid DNA template

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.47.29945

21 January 2018

Human microsomal triglyceride transfer protein large subunit gene structure

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.47.29945

21 January 2018

Microsomal triglyceride transfer protein: a protein complex required for the assembly of lipoprotein particles

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.47.29945

21 January 2018

The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.47.29945

21 January 2018

Identifiers

10.1074/JBC.271.47.29945

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