Literature DB >> 1923791

Dinucleotide repeat polymorphism at the RYR1 locus (19q13.1).

F J Couch1, K Hogan, T V McCarthy, R G Gregg.   

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Year:  1991        PMID： 1923791      PMCID： PMC328839          DOI： 10.1093/nar/19.18.5094

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  2 in total

1.  Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum.

Authors:  F Zorzato; J Fujii; K Otsu; M Phillips; N M Green; F A Lai; G Meissner; D H MacLennan
Journal:  J Biol Chem       Date:  1990-02-05       Impact factor: 5.157

2.  The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy.

Authors:  A E MacKenzie; R G Korneluk; F Zorzato; J Fujii; M Phillips; D Iles; B Wieringa; S Leblond; J Bailly; H F Willard
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025
  2 in total
  5 in total

1.  The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree.

Authors:  A M Adeokun; S P West; F R Ellis; P J Halsall; P M Hopkins; A M Foroughmand; D E Iles; R L Robinson; A D Stewart; J L Curran
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

2.  Evidence for human meiotic recombination interference obtained through construction of a short tandem repeat-polymorphism linkage map of chromosome 19.

Authors:  J L Weber; Z Wang; K Hansen; M Stephenson; C Kappel; S Salzman; P J Wilkie; B Keats; N C Dracopoli; B F Brandriff
Journal:  Am J Hum Genet       Date:  1993-11       Impact factor: 11.025

3.  Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families.

Authors:  R Robinson; J L Curran; W J Hall; P J Halsall; P M Hopkins; A F Markham; A D Stewart; S P West; F R Ellis
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

4.  Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree.

Authors:  J M Healy; K A Quane; K E Keating; M Lehane; J J Heffron; T V McCarthy
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

5.  Refined genetic localization for central core disease.

Authors:  J C Mulley; H M Kozman; H A Phillips; A K Gedeon; J A McCure; D E Iles; R G Gregg; K Hogan; F J Couch; D H MacLennan
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025
  5 in total

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