Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates: LSD in UAE

Lysosomal storage disorders (LSD) are rare entities of recessive inheritance. The presence of a “founder” mutation in isolated communities with a high degree of consanguinity (e.g., tribes in the Middle East North Africa, MENA, region) is expected to lead to unusually high disease prevalence. The pr...

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Autori principali: Al-Jasmi, Fatma A., Tawfig, Nafisa, Berniah, Ans, Ali, Bassam R., Taleb, Mahmoud, Hertecant, Jozef L., Bastaki, Fatma, Souid, Abdul-Kader
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2013
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3755583/
https://ncbi.nlm.nih.gov/pubmed/23430803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_182
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