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Novel Mutations in Extracellular Matrix Protein 1 Gene in a Chinese Patient with Lipoid Proteinosis.

Chinese medical journal - 20 Nov 2016

Bai Xiao, Liu Jia-Wei, Ma Dong-Lai

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 27824015
DOI: 10.4103/0366-6999.193446
PMCID: PMC5126174

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Novel Mutations in Extracellular Matrix Protein 1 Gene in a Chinese Patient with Lipoid Proteinosis.PMID 27824015Read ↗

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

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

The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.Semantic proximity Read ↗

Lipoid proteinosis presenting with an unusual nonsense Q32X mutation in exon 2 of the extracellular matrix protein 1 gene.Semantic proximity Read ↗

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