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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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Détails bibliographiques
Publié dans:Proc Natl Acad Sci U S A
Auteurs principaux: Goldin, Ehud, Cooney, Adele, Kaneski, Christine R., Brady, Roscoe O., Schiffmann, Raphael
Format: Artigo
Langue:Inglês
Publié: National Academy of Sciences 1999
Sujets:
Accès en ligne:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC17556/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10411915/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.96.15.8562
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