Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the <it>ECM1 </it>gene in a Pakistani family

• Main Authors: Naeem Muhammad (Author), Qamar Reem (Author), Ajmal Muhammad (Author), Latif Amir (Author), Nasir Muhammad (Author), Hameed Abdul (Author)
• Format: Book
• Published: BMC, 2011-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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...