Does the A3333G Mutation in theCACNL1A3Gene, Detected in Malignant Hyperthermia, Also Occur in Central Core Disease?-Reference-Cited by-同舟云学术

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Does the A3333G Mutation in theCACNL1A3Gene, Detected in Malignant Hyperthermia, Also Occur in Central Core Disease?

Published:2000-12-19 Issue:4 Volume:4 Page:383-386
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Vainzof Mariz¹,Muniz Viviane P.²,Tsanaclis Ana Maria C.³,Silva Helga C.A.³,Rusticci Monica S.²

Affiliation:

1. Center for the Study of the Human Genome, IBUSP, and Department of Neurology, FMUSP, University of São Paulo, São Paulo, SP-CEP 05508-900, Brazil.

2. Department of Neurology, FMUSP, University of São Paulo, São Paulo, SP-CEP 05508-900, Brazil.

3. Department of Pathology, FMUSP, University of São Paulo, São Paulo, SP-CEP 05508-900, Brazil.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/109065700750065135

Reference18 articles.

1. Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test

2. A single nucleotide deletion in the skeletal muscle-specific calcium channel transcript of muscular dysgenesis (mdg) mice.

3. Central-core disease and malignant hyperpyrexia.

4. A PROTOCOL FOR THE INVESTIGATION OF MALIGNANT HYPERPYREXIA (MH) SUSCEPTIBILITY

5. A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

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1. Perfil dos relatos de suscetibilidade à hipertermia maligna confirmados com teste de contratura muscular no Brasil;Brazilian Journal of Anesthesiology;2019-03

2. Profile of malignant hyperthermia susceptibility reports confirmed with muscular contracture test in Brazil;Brazilian Journal of Anesthesiology (English Edition);2019-03

3. Malignant Hyperthermia in Brazil: Analysis of Hotline Activity in 2009;Brazilian Journal of Anesthesiology;2013-01

4. Hipertermia Maligna en Brasil: Análisis de la Actividad del Hotline en 2009;Brazilian Journal of Anesthesiology (Edicion en Espanol);2013-01

5. Malignant Hyperthermia in Brazil: Analysis of Hotline Activity in 2009;Brazilian Journal of Anesthesiology (English Edition);2013-01

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