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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Bibliografiske detaljer
Main Authors: Naeem Muhammad, Qamar Reem, Ajmal Muhammad, Latif Amir, Nasir Muhammad, Hameed Abdul
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2011-07-01
Serier:Diagnostic Pathology
Fag:
<it>ECM1</it>
genodermatoses
mutation
Pakistan
Online adgang:http://www.diagnosticpathology.org/content/6/1/69
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