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Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans
BACKGROUND: Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder characterized by severe neurologic and ophthalmologic abnormalities. Recently the MLIV gene, MCOLN1, has been identified as a new member of the transient receptor potential (TRP) cation channel superfamily....
| Autores principales: | , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2002
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC88885/ https://www.ncbi.nlm.nih.gov/pubmed/11897010 http://dx.doi.org/10.1186/1471-2164-3-3 |