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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2011
Gaiak:
Research Article
Sarrera elektronikoa: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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