Article
A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.
Genomics - 15 Apr 2001
Acierno J S, Kennedy J C, Falardeau J L, Leyne M, Bromley M C, Colman M W, Sun M, Bove C, Ashworth L K, Chadwick L H, Schiripo T, Ma S, Goldin E, Schiffmann R, Slaugenhaupt S A
Abstract excerpt
Mutations in MCOLN1 have been found to cause mucolipidosis type IV (MLIV; MIM 252650), a rare autosomal recessive lysosomal storage disorder found primarily in the Ashkenazi Jewish population. As a part of the successful cloning of MCOLN1, we constructed a 1.4-Mb physical map containing 14 BACs and 4 cosmids that encompasses the region surrounding MCOLN1 on human chromosome 19p13.3-p13.2-a region to which linkage...
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