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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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Dades bibliogràfiques
Publicat a:Am J Hum Genet
Autors principals: Kallijärvi, Jukka, Avela, Kristiina, Lipsanen-Nyman, Marita, Ulmanen, Ismo, Lehesjoki, Anna-Elina
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2002
Matèries:
Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC447596/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11938494/
https://ncbi.nlm.nih.govhttps://doi.org/10.1086/340256
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