Article
A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.
Gene - 10 Sept 2013
AlBakheet AlBandary, Qari Aliya, Colak Dilek, Rasheed Anas, Kaya Namik, Al-Sayed Moeenaldeen
Abstract excerpt
Mucolipidosis type IV is a rare autosomal recessive lysosomal storage disorder reported among Ashkenazi Jews and to a lesser extent in other ethnic groups. Several mutations have been reported in MCOLN1 which is the only known gene associated with the disorder. Here we report the first Saudi patient with Mucolipidosis type IV from a consanguineous family with two branches having a total of five patients carrying...
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