POSIZIONAL CLONING OF THE LGMD2B GENE ON CHROMOSOME 2p13 AND PROTEIN DIAGNOSIS IN LIMB-GIRDLE MUSCULAR DYSTROPHY
- 2 Anni 1997/1999
- 51.646€ Totale Fondi
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Pubblicazioni Scientifiche
- 1998 NATURE GENETICS
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
- 1999 HUMAN MOLECULAR GENETICS
Dysferlin is a plasma membrane protein and is expressed early in human development
- 2001 NEUROMUSCULAR DISORDERS
Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations
