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Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the <it>ECM1 </it>gene in a Pakistani family
<p>Abstract</p> <p>Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood that is caused by homozygous or compound heterozygous mutations in the <it>ECM1 </it>gene located on ch...
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| Autores principales: | , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMC
2011-07-01
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| Colección: | Diagnostic Pathology |
| Materias: | |
| Acceso en línea: | http://www.diagnosticpathology.org/content/6/1/69 |
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