Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

BACKGROUND: Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood. It is caused by homozygous or compound heterozygous mutations in the ECM1 gene. The disease is largely uncharacterized in Arab population a...

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Detalhes bibliográficos
Main Authors: Salih, Mustafa A, Abu-Amero, Khaled K, Alrasheed, Saleh, Alorainy, Ibrahim A, Liu, Lu, McGrath, John A, Van Maldergem, Lionel, Al-Fakey, Yasser H, AlSuhaibani, Adel H, Oystreck, Darren T, Bosley, Thomas M
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3050790/
https://ncbi.nlm.nih.gov/pubmed/21349189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-12-31
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