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 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 1994

Fingerprint

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

ASJC Scopus subject areas

  • Genetics

Cite this

George, A. L., Sloan-Brown, K., Fenichel, G. M., Mitchell, G. A., Spiegel, R., & Pascuzzi, R. (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.

In: Human Molecular Genetics, Vol. 3, No. 11, 11.1994, p. 2071-2072.

Research output: Contribution to journalArticle

George, AL, Sloan-Brown, K, Fenichel, GM, Mitchell, GA, Spiegel, R & Pascuzzi, R 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, Alfred L. ; Sloan-Brown, Karen ; Fenichel, Gerald M. ; Mitchell, Grant A. ; Spiegel, Roland ; Pascuzzi, Robert. / 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.
@article{00a2ff5d34f44faaa7ce8a341e1e0e27,
title = "Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita",
author = "George, {Alfred L.} and Karen Sloan-Brown and Fenichel, {Gerald M.} and Mitchell, {Grant A.} and Roland Spiegel and Robert Pascuzzi",
year = "1994",
month = "11",
language = "English (US)",
volume = "3",
pages = "2071--2072",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "11",

}

TY - JOUR

T1 - Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita

AU - George, Alfred L.

AU - Sloan-Brown, Karen

AU - Fenichel, Gerald M.

AU - Mitchell, Grant A.

AU - Spiegel, Roland

AU - Pascuzzi, Robert

PY - 1994/11

Y1 - 1994/11

UR - http://www.scopus.com/inward/record.url?scp=0027997634&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027997634&partnerID=8YFLogxK

M3 - Article

C2 - 7874130

AN - SCOPUS:0027997634

VL - 3

SP - 2071

EP - 2072

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 11

ER -