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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Main Authors: Goldin, Ehud, Cooney, Adele, Kaneski, Christine R., Brady, Roscoe O., Schiffmann, Raphael
Format: Artigo
Jezik:Inglês
Izdano: The National Academy of Sciences 1999
Teme:
Biological Sciences
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC17556/
https://ncbi.nlm.nih.gov/pubmed/10411915
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