Article
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder.
American journal of human genetics - 1 May 2002
Kallijärvi Jukka, Avela Kristiina, Lipsanen-Nyman Marita, Ulmanen Ismo, Lehesjoki Anna-Elina
Abstract excerpt
Mulibrey nanism is a rare growth disorder of prenatal onset caused by mutations in the TRIM37 gene, which encodes a RING-B-box-coiled-coil protein. The pathogenetic mechanisms of mulibrey nanism are unknown. We have used transiently transfected cells and antibodies raised against the predicted TRIM37 protein to characterize the TRIM37 gene product and to determine its intracellular localization. We show that the...
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