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A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.
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A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.
A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. Neuromuscul Disord. 2007 Apr; 17(4):285-9.
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PubMed
subject areas
Asparagine
Aspartic Acid
Child, Preschool
Dystrophin
Female
Glycoproteins
Humans
Muscular Dystrophies
Mutation
Pentosyltransferases
Proteins
authors with profiles
Darrel J. Waggoner
Peter Pytel
Ewa Chelmicka-Schorr
Robert Wollmann