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Publications by P J Lynch
Detection of a Novel Mutation in the Ryanodine Receptor Gene in an Irish Malignant Hyperthermia Pedigree: Correlation of the IVCT Response With the Affected and Unaffected Haplotypes.
Journal of Medical Genetics
Genetics
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Functional Analysis of Ryanodine Receptor Carrying Malignant Hyperthermia Associated Mutations
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A Novel KCNA1 Mutation in a Family With Episodic Ataxia and Malignant Hyperthermia
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Detection of a Novel Mutation in the CACNA1A Gene
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Calmodulin Sensitivity of the Sarcoplasmic Reticulum Ryanodine Receptor From Normal and Malignant-Hyperthermia-Susceptible Muscle
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Novel Mutation in ABCC6 Gene in a Japanese Pedigree With Pseudoxanthoma Elasticum and Retinitis Pigmentosa
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Role of Malignant Hyperthermia Domain in the Regulation of Ca2+Release Channel (Ryanodine Receptor) of Skeletal Muscle Sarcoplasmic Reticulum
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A Novel Splicing Site Mutation of the GPR143 Gene in a Chinese X-Linked Ocular Albinism Pedigree
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Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient
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Identification of a Novel Compound Heterozygous Mutation of the CYP21A2 Gene Causing 21‑hydroxylase Deficiency in a Chinese Pedigree
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