Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level (Q35810128)

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5 October 2019

title

Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level (English)

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5 October 2019

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1

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5 October 2019

author name string

Gregg RE

2

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5 October 2019

Law SW

3

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5 October 2019

Monge JC

4

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5 October 2019

Grant SM

5

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5 October 2019

Higuchi K

6

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5 October 2019

Triche TJ

7

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5 October 2019

Jefferson J

8

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5 October 2019

Brewer HB Jr

9

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5 October 2019

language of work or name

English

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publication date

1 February 1988

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Journal of Clinical Investigation

5 October 2019

published in

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5 October 2019

volume

81

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5 October 2019

issue

2

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5 October 2019

page(s)

590-595

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Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes

5 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

RNA processing errors in patients with beta-thalassemia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

cDNA cloning of human apoA-I: amino acid sequence of preproapoA-I

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

ATA box transcription mutation in beta-thalassemia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

Hybridization of nucleic acids immobilized on solid supports

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

Nucleotide sequence and the encoded amino acids of human apolipoprotein A-I mRNA

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

Isolation of a cDNA clone encoding the amino-terminal region of human apolipoprotein B.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

Human liver apolipoprotein B-100 cDNA: complete nucleic acid and derived amino acid sequence

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

The human apolipoprotein A-II gene: complete nucleic acid sequence and genomic organization

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

Structure of the human apolipoprotein B gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

Detection of specific sequences among DNA fragments separated by gel electrophoresis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: a report of the occurence of both diseases within the same family

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

Alpha-thalassaemia caused by a polyadenylation signal mutation.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

Determinants of messenger RNA stability

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329607

Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia

25 September 2018

1 reference

12 December 2020

Immunoenzymatic labeling of monoclonal antibodies using immune complexes of alkaline phosphatase and monoclonal anti-alkaline phosphatase (APAAP complexes)

1 reference

12 December 2020

DEMYELINATING CENTRAL NERVOUS SYSTEM DISEASE, MACULAR ATROPHY AND ACANTHOCYTOSIS (BASSEN-KORNZWEIG SYNDROME)

1 reference

12 December 2020

Absorption and metabolism of vitamin D3 in man

1 reference

12 December 2020

Plasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease

1 reference

12 December 2020

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI113357

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2828430%20AND%20SRC:MED&resulttype=core&format=json

5 October 2019

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5 October 2019

PubMed publication ID

2828430

1 reference