Article
Mucolipidosis IV consists of one complementation group.
Proceedings of the National Academy of Sciences of the United States of America - 20 Jul 1999
Goldin E, Cooney A, Kaneski C R, Brady R O, Schiffmann R
Abstract excerpt
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. In this paper, we present experiments that determined whether the MLIV phenotype in fibroblasts could be corrected...
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