Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita

Alfred L. George, Karen Sloan-Brown, Gerald M. Fenichel, Grant A. Mitchell, Roland Spiegel, Robert M. Pascuzzi

Research output: Contribution to journalArticle

85 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)2071-2072
Number of pages2
JournalHuman molecular genetics
Volume3
Issue number11
StatePublished - Nov 1 1994

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Molecular Sequence Data
Myotonia Congenita
Single-Stranded Conformational Polymorphism
Chloride Channels
Nonsense Codon
Missense Mutation
Exons
Muscles
Mutation
Genes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

George, A. L., Sloan-Brown, K., Fenichel, G. M., Mitchell, G. A., Spiegel, R., & Pascuzzi, R. M. (1994). Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Human molecular genetics, 3(11), 2071-2072.

Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. / George, Alfred L.; Sloan-Brown, Karen; Fenichel, Gerald M.; Mitchell, Grant A.; Spiegel, Roland; Pascuzzi, Robert M.

In: Human molecular genetics, Vol. 3, No. 11, 01.11.1994, p. 2071-2072.

Research output: Contribution to journalArticle

George, AL, Sloan-Brown, K, Fenichel, GM, Mitchell, GA, Spiegel, R & Pascuzzi, RM 1994, 'Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita', Human molecular genetics, vol. 3, no. 11, pp. 2071-2072.
George AL, Sloan-Brown K, Fenichel GM, Mitchell GA, Spiegel R, Pascuzzi RM. Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Human molecular genetics. 1994 Nov 1;3(11):2071-2072.
George, Alfred L. ; Sloan-Brown, Karen ; Fenichel, Gerald M. ; Mitchell, Grant A. ; Spiegel, Roland ; Pascuzzi, Robert M. / Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. In: Human molecular genetics. 1994 ; Vol. 3, No. 11. pp. 2071-2072.
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