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A novel splice-site ECM1 gene mutation in a Lebanese girl with lipoid proteinosis.

International journal of dermatology - 1 Jul 2013

Abbas Ossama, Farooq Muhammad, El Khoury Jinane, Kibbi Abdul-Ghani, Fujikawa Hiroki, Fujimoto Atsushi, Shimomura Yutaka, Kurban Mazen

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Identifiers

PMID: 23789600
DOI: 10.1111/ijd.12013

Genes

ECM1

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Related research

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A novel splice-site ECM1 gene mutation in a Lebanese girl with lipoid proteinosis.PMID 23789600Read ↗

A novel homozygous 62-bp insertion in ECM1 causes lipoid proteinosis in a multigeneration Pakistani family.Semantic proximity Read ↗

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Novel human pathological mutations. Gene symbol: ECM1. Disease: Lipoid Proteinosis.Semantic proximity Read ↗

Lipoid proteinosis: A clinical and molecular study in Egyptian patients.Semantic proximity Read ↗

Novel Mutations in Extracellular Matrix Protein 1 Gene in a Chinese Patient with Lipoid Proteinosis.Semantic proximity Read ↗

Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis.Semantic proximity Read ↗

A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis.Semantic proximity Read ↗

Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation.Semantic proximity Read ↗

Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab familiesSemantic proximity Read ↗

Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation.Semantic proximity Read ↗

A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye.Semantic proximity Read ↗

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

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