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Results 1 - 3 of 3 for Mucolipidosis
  1. ... the MCOLN1 gene have been found to cause mucolipidosis type IV. Most of these mutations result in ... MCOLN1 gene account for almost all cases of mucolipidosis type IV in people with Ashkenazi Jewish ancestry. ...
  2. ... the GNPTAB gene have been found to cause mucolipidosis II alpha/beta. These mutations prevent the production ... cause molecules to build up inside lysosomes, including mucolipidosis II alpha/beta, are called lysosomal storage disorders. ...
  3. ... the GNPTG gene have been found to cause mucolipidosis III gamma. These mutations result in reduced the ... cause molecules to build up inside lysosomes, including mucolipidosis III gamma, are called lysosomal storage disorders. The ...