Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations [2]

Ricardo A Maselli, H. Dris, J. Schnier, J. L. Cockrell, C. L. Wollmann

Research output: Contribution to journalArticle

12 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)63-65
Number of pages3
JournalClinical Genetics
Volume72
Issue number1
DOIs
StatePublished - Jul 2007

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Congenital Myasthenic Syndromes
Recombinant Fusion Proteins
Recessive Genes
Muscle Proteins
Nicotinic Receptors
Amino Acid Substitution
Pedigree
Heterozygote
Green Fluorescent Proteins
Point Mutation
Transfection
Amino Acid Sequence
Exons
Cell Line
Mutation
peripheral membrane protein 43K

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations [2]. / Maselli, Ricardo A; Dris, H.; Schnier, J.; Cockrell, J. L.; Wollmann, C. L.

In: Clinical Genetics, Vol. 72, No. 1, 07.2007, p. 63-65.

Research output: Contribution to journalArticle

Maselli, Ricardo A ; Dris, H. ; Schnier, J. ; Cockrell, J. L. ; Wollmann, C. L. / Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations [2]. In: Clinical Genetics. 2007 ; Vol. 72, No. 1. pp. 63-65.
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