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Limb-Girdle Muscular Dystrophy Type 2H Associated with Mutation in TRIM32, a Putative E3-Ubiquitin–Ligase Gene

Limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild autosomal recessive myopathy that was first described in the Manitoba Hutterite population. Previous studies in our laboratory mapped the causative gene for this disease to a 6.5-Mb region in chromosomal region 9q31-33, flanked by D9S302 and...

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Autores principales: Frosk, Patrick, Weiler, Tracey, Nylen, Edward, Sudha, Thangirala, Greenberg, Cheryl R., Morgan, Kenneth, Fujiwara, T. Mary, Wrogemann, Klaus
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2002
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC447621/
https://ncbi.nlm.nih.gov/pubmed/11822024
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