(Q28258987)

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Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

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Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome (English)

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inferred from title

dysequilibrium syndrome

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inferred from title

Andreas Tzschach

2

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Masoud Garshasbi

object named as

Masoud Garshasbi

3

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Hossein Najmabadi

object named as

Hossein Najmabadi

8

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author name string

Lia Abbasi Moheb

1

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Kimia Kahrizi

4

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Hossein Darvish

5

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Yaser Heshmati

6

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Alireza Kordi

7

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Hans Hilger Ropers

9

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Andreas Walter Kuss

10

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language of work or name

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publication date

February 2008

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European Journal of Human Genetics

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16

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270-3

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2

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Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201967

21 April 2017

Role of the reelin signaling pathway in central nervous system development

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201967

21 April 2017

Reelin and brain development

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201967

21 April 2017

Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201967

21 April 2017

A protein related to extracellular matrix proteins deleted in the mouse mutant reeler

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201967

21 April 2017

Autosomal recessive cerebellar hypoplasia in the Hutterite population.

1 reference

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21 January 2018

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201967

21 January 2018

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201967

21 January 2018

Enhancement of the binding of triglyceride-rich lipoproteins to the very low density lipoprotein receptor by apolipoprotein E and lipoprotein lipase

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201967

21 January 2018

Characterization and tissue-specific expression of the human 'very low density lipoprotein (VLDL) receptor' mRNA.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201967

21 January 2018

LDL receptor-related protein: a multiligand receptor for lipoprotein and proteinase catabolism.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201967

7 January 2021

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10.1038/SJ.EJHG.5201967

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release_hp3qwy3scjdinjbfwpudohouwu

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https://api.fatcat.wiki/v0/release/hp3qwy3scjdinjbfwpudohouwu

24 November 2022

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Springer Nature article ID

10.1038/sj.ejhg.5201967

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