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....

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Main Authors: Falardeau, John L, Kennedy, John C, Acierno, James S, Sun, Mei, Stahl, Stefanie, Goldin, Ehud, Slaugenhaupt, Susan A
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2002
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC88885/
https://ncbi.nlm.nih.gov/pubmed/11897010
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-3-3
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