(Q34574677)

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Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient

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Europe PubMed Central

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3 August 2017

Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient (English)

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Europe PubMed Central

PubMed publication ID

3 August 2017

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abetalipoproteinemia

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5

object named as

Doron M Behar

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3 August 2017

author name string

Liat Benayoun

1

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Europe PubMed Central

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3 August 2017

Esther Granot

2

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3 August 2017

Leah Rizel

3

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3 August 2017

Stavit Allon-Shalev

4

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3 August 2017

Tamar Ben-Yosef

6

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3 August 2017

publication date

1 February 2007

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3 August 2017

Molecular Genetics and Metabolism

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3 August 2017

90

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3 August 2017

4

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3 August 2017

453-457

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Europe PubMed Central

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3 August 2017

Hypocholesterolemia in childhood

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.010

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Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin A supplementation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.010

7 January 2021

Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.010

7 January 2021

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/10.1016%2FJ.YMGME.2006.12.010

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.010

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.010

7 January 2021

Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.010

7 January 2021

Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.010

7 January 2021

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/10.1016%2FJ.YMGME.2006.12.010

7 January 2021

Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.010

7 January 2021

The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.010

7 January 2021

Molecular basis of mendelian disorders among Jews

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.010

7 January 2021

A genetic profile of contemporary Jewish populations

1 reference

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7 January 2021

The genetic bases for syndromic and nonsyndromic deafness among Jews

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.010

7 January 2021

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.010

7 January 2021

The possibility of a selection process in the Ashkenazi Jewish population

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.010

7 January 2021

Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.010

7 January 2021

A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.010

7 January 2021

Identification of the yeast gene encoding the tRNA m1G methyltransferase responsible for modification at position 9.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.12.010

7 January 2021

Identifiers

10.1016/J.YMGME.2006.12.010

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

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