A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1995.tb04311.x/fullpdf
Reference5 articles.
1. Modification of enzyinatically amplified DNA for the detection of point mutation;Haliassos;Nucieic Acids Res,1989
2. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia;MacLennan;Nature,1990
3. Localisation of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2;McCarthy;Nature,1990
4. Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implication for diagnosis and heterogeneity studies;Quane;Hum Mol Genet,1994
5. Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum;Zorzato;J Biol Chem,1990
Cited by 7 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia;Clinical Genetics;2008-06-28
2. Malignant hyperthermia susceptibility, an autosomal dominant disorder?;Clinical Genetics;2008-06-28
3. RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility;Clinical Genetics;2008-06-28
4. Methods to detect the RYR1 G742A and A1565C mutations associated with malignant hyperthermia using a PCR-modified restriction sites technique;Clinical Genetics;2008-04-23
5. Mutations inRYR1in malignant hyperthermia and central core disease;Human Mutation;2006-10
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