(Q34465817)

2 August 2017

title

A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis (English)

1 reference

2 August 2017

2

Tamara Potikha

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author name string

Liran Horev

1

1 reference

2 August 2017

Tamara Potikha

2

1 reference

2 August 2017

Sharon Ayalon

3

1 reference

2 August 2017

Vered Molho-Pessach

4

1 reference

2 August 2017

Arieh Ingber

5

1 reference

2 August 2017

Mohamad Abdel Gany

6

1 reference

2 August 2017

Basel Sad Edin

7

1 reference

2 August 2017

Benjamin Glaser

8

1 reference

2 August 2017

Abraham Zlotogorski

9

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2 August 2017

publication date

1 December 2005

1 reference

2 August 2017

published in

Experimental Dermatology

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2 August 2017

volume

14

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2 August 2017

issue

12

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2 August 2017

page(s)

891-897

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2005.00374.X

2 August 2017

1 reference

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2005.00374.X

Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2005.00374.X

Molecular basis of lipoid proteinosis in a Libyan family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2005.00374.X

The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2005.00374.X

Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2005.00374.X

Perlecan protein core interacts with extracellular matrix protein 1 (ECM1), a glycoprotein involved in bone formation and angiogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2005.00374.X

Matrix metalloproteinases in tumor progression: focus on basal and squamous cell skin cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2005.00374.X

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2005.00374.X

Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2005.00374.X

A perfect message: RNA surveillance and nonsense-mediated decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2005.00374.X

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2005.00374.X

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2005.00374.X

Signals and their transduction pathways regulating alternative splicing: a new dimension of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2005.00374.X

10.1111/J.1600-0625.2005.00374.X

21 January 2018

Identifiers

DOI

1 reference

2 August 2017

1 reference