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Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.
Maselli R, Dris H, Schnier J, Cockrell J, Wollmann R. Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. Clin Genet. 2007 Jul; 72(1):63-5.
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PubMed
subject areas
Amino Acid Sequence
Amino Acid Substitution
Cell Line
Exons
Female
Genes, Recessive
Green Fluorescent Proteins
Heterozygote
Humans
Infant
Male
Muscle Proteins
Myasthenic Syndromes, Congenital
Pedigree
Point Mutation
Receptors, Nicotinic
Recombinant Fusion Proteins
Transfection
authors with profiles
Robert Wollmann
Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.