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Mucolipidosis IV consists of one complementation group

Mucolipidosis IV (MLIV) is an autosomal recessive disorder of unknown etiology characterized by severe visual impairment and psychomotor retardation. Recently, there has been considerable interest in positional cloning of the MLIV gene. It is unknown whether MLIV is a genetically homogenous disorder...

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Autores principales: Goldin, Ehud, Cooney, Adele, Kaneski, Christine R., Brady, Roscoe O., Schiffmann, Raphael
Formato: Artigo
Lenguaje:Inglês
Publicado: The National Academy of Sciences 1999
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC17556/
https://ncbi.nlm.nih.gov/pubmed/10411915
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