PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy

Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive progressive neurodegenerative disease that presents within the first 2 years of life and culminates in death by age 10 years. Affected individuals from two unrelated Bedouin Israeli kindreds were studied. Brain imaging demonstrated dif...

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Detalhes bibliográficos
Main Authors: Khateeb, Shareef, Flusser, Hagit, Ofir, Rivka, Shelef, Ilan, Narkis, Ginat, Vardi, Gideon, Shorer, Zamir, Levy, Rachel, Galil, Aharon, Elbedour, Khalil, Birk, Ohad S.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2006
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1698558/
https://ncbi.nlm.nih.gov/pubmed/17033970
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