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Several interacting...
Several interacting genes influence the malignant hyperthermia phenotype
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Robinson, R (author)
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Hopkins, P (author)
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Carsana, A (author)
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Gilly, H (author)
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Halsall, J (author)
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Heytens, L (author)
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- Islander, Gunilla (author)
- Lund University,Lunds universitet,Anestesiologi och intensivvård,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Anesthesiology and Intensive Care,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine
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Jurkat-Rott, K (author)
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Muller, C (author)
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Shaw, MA (author)
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(creator_code:org_t)
- Springer Science and Business Media LLC, 2003
- 2003
- English.
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In: Human Genetics. - : Springer Science and Business Media LLC. - 1432-1203 .- 0340-6717. ; 112:2, s. 217-218
- Related links:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
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- Malignant hyperthermia (MH), a potentially lethal disorder of skeletal muscle calcium homeostasis, manifests only on exposure to certain anaesthetic drugs. The mode of inheritance appears to be autosomal dominant with both locus and allelic heterogeneity having been reported. Association analysis of eight MH candidate loci in UK families has indicated that several genes influence susceptibility in individual families, rather than MH simply being a major gene defect. In support of this hypothesis, we present data on a replica analysis of an independent sample of European MH families.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Robinson, R
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Hopkins, P
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Carsana, A
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Gilly, H
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Halsall, J
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Heytens, L
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show more...
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Islander, Gunill ...
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Jurkat-Rott, K
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Muller, C
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Shaw, MA
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Human Genetics
- By the university
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Lund University