[R21] The Molecular Basis of R249W LMNA-related Congenital Muscular Dystrophy
Ente: Eunice Kennedy Shriver National Institute of Child Health and Human Development
Scadenza: 2028-05-31
Importo max: $424,743
Paese: US
Descrizione
ABSTRACT
LMNA-related congenital muscular dystrophy (L-CMD) is a rare, devastating genetic disorder that causes
severe early-onset muscle weakness and wasting; the R249W mutation accounts for approximately 25% of over
100 reported cases. Despite its prevalence, few studies have investigated R249W i
Settori: Eunice Kennedy Shriver National Institute of Child Health and Human Development
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