Molecular and pathological basis of aceruloplasminemia
Aceruloplasminemia is an autosomal recessive neurodegenerative disease characterized by iron accumulation in the brain as well as visceral organs. It is a loss-of-function disorder caused by mutations in the ceruloplasmin gene. Clinically, this disease consists of the triad of adult-onset neurologic...
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| Langue: | English |
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Sociedad de Biología de Chile
2006
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| Accès en ligne: | http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602006000100003 |
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