Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

Mei Sun · Human Molecular Genetics · 2000 · 456 citations

Life Sciences, Genetics, Molecular Genetics +17

Identification of the gene causing mucolipidosis type IV

Ruth Bargal, Nili Avidan, Edna Ben‐Asher et al. · Nature Genetics · 2000 · 399 citations

Life Sciences, Genetics, Molecular Genetics +8

Cloning of the Gene Encoding a Novel Integral Membrane Protein, Mucolipidin—and Identification of the Two Major Founder Mutations Causing Mucolipidosis Type IV

Maria Teresa Bassi, Marta Manzoni, Eugenio Monti et al. · The American Journal of Human Genetics · 2000 · 252 citations

Life Sciences, Genetics, Molecular Genetics +5

The neurogenetics of mucolipidosis type IV

Gheona Altarescu, Mei Sun, Dennis F. Moore et al. · Neurology · 2002 · 178 citations

Life Sciences, Genetics, Neurology +14

Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis

Elaine R. Berman, N Livni, E. Shapira et al. · The Journal of Pediatrics · 1974 · 173 citations

Medicine, Ophthalmology, Pathology +11