A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis-Reference-Cited by-同舟云学术

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

Published:2005-12 Issue:12 Volume:14 Page:891-897
ISSN:0906-6705
Container-title:Experimental Dermatology
language:en
Short-container-title:Exp Dermatol

Author:

Horev Liran,Potikha Tamara,Ayalon Sharon,Molho-Pessach Vered,Ingber Arieh,Gany Mohamad Abdel,Edin Basel Sad,Glaser Benjamin,Zlotogorski Abraham

Publisher

Wiley

Subject

Dermatology,Molecular Biology,Biochemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0625.2005.00374.x/fullpdf

Reference21 articles.

1. Lipoid proteinosis

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

3. Extracellular Matrix Protein 1 Gene (ECM1) Mutations in Lipoid Proteinosis and Genotype-Phenotype Correlation

4. Molecular basis of lipoid proteinosis in a Libyan family

5. The Human Extracellular Matrix Gene 1 (ECM1): Genomic Structure, cDNA Cloning, Expression Pattern, and Chromosomal Localization

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5. Lipoid proteinosis: a first report of mutation Val10Gly in the signal peptide of the ECM1 gene;Advances in Dermatology and Allergology;2018

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