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The TRIM37 Gene Encodes a Peroxisomal RING-B-Box-Coiled-Coil Protein: Classification of Mulibrey Nanism as a New Peroxisomal Disorder

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 TRIM3...

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Bibliografische gegevens
Hoofdauteurs: Kallijärvi, Jukka, Avela, Kristiina, Lipsanen-Nyman, Marita, Ulmanen, Ismo, Lehesjoki, Anna-Elina
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The American Society of Human Genetics 2002
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC447596/
https://ncbi.nlm.nih.gov/pubmed/11938494
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