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Novel nonsense mutation (C→A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy

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Bibliographic Details
Published in:	Human mutation 1998, Vol.11 (S1), p.S137-S138
Main Authors:	Melis, Maria Antonietta, Muntoni, Francesco, Cau, Milena, Loi, Daniela, Puddu, Alberto, Boccone, Loredana, Mateddu, Anna, Cianchetti, Carlo, Cao, Antonio
Format:	Article
Language:	English
Subjects:	Child, Preschool Codon, Terminator - genetics DNA Mutational Analysis DNA, Complementary - chemistry DNA, Complementary - genetics Dystrophin - genetics Exons - genetics Family Health Humans Male Muscular Dystrophies - genetics Muscular Dystrophies - pathology Point Mutation Serine
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Online Access:	Get full text
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