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Article

Analysis of RYR1 haplotype profile in patients with malignant hyperthermia.

Annals of human genetics - 1 Jan 2009

Carpenter D, Morris A, Robinson R L, Booms P, Iles D, Halsall P J, Steele D, Hopkins P M, Shaw M-A

Abstract excerpt

This study represents a new approach to characterising patients at risk of malignant hyperthermia (MH) through the use of a recently published method for identifying high-risk haplotypes in candidate genes. We present analysis based upon the largest standardised and genotyped database of MH patients worldwide. We used unphased RYR1 SNP data directly to (1) assess RYR1 haplotype frequency differences between...

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Source

Identifiers

PMID: 18945287
DOI: 10.1111/j.1469-1809.2008.00482.x

Genes

RYR1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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