Identification of a novel three-nucleotide duplication in ECM1 in Chinese siblings affected with lipoid proteinosis
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference16 articles.
1. Lipoidosis cutis et mucosae;Urbach;Virchows Arch. Path Anat.,1929
2. Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae). A review;Hofer;Acta. Derm. Venereol. Suppl. (Stockh),1973
3. LIPOID Proteinosis..: I: The Clinical Picture.;HEYL;Br. J. Dermatol.,1963
4. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1);Hamada;Hum. Mol. Genet.,2002
5. Differentiation-dependent alternative splicing and expression of the extracellular matrix protein 1 gene in human keratinocytes;Smits;J, Invest. Dermatol.,2000
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1. Lipoid proteinosis;Mucosa;2021-06-30
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