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Nature Genetics 9, 115–125 (1 February 1995) | doi:10.1038/ng0295-115

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

Gabriele Dodt , Nancy Braverman , Candice Wong , Ann Moser , Hugo W. Moser , Paul Watkins , David Valle & Stephen J. Gould