Literature DB >> 11241852

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia.

H Rueffert1, H Kraus, D Olthoff, C Deutrich, U G Froster.   

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Year:  2001        PMID： 11241852     DOI： 10.1002/humu.15

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  2 in total

1.  Antibody probe study of Ca2+ channel regulation by interdomain interaction within the ryanodine receptor.

Authors:  Shigeki Kobayashi; Takeshi Yamamoto; Jerome Parness; Noriaki Ikemoto
Journal:  Biochem J       Date:  2004-06-01       Impact factor: 3.857

2.  Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.

Authors:  Werner Klingler; Sebastian Heiderich; Thierry Girard; Elvira Gravino; James Ja Heffron; Stephan Johannsen; Karin Jurkat-Rott; Henrik Rüffert; Frank Schuster; Marc Snoeck; Vincenzo Sorrentino; Vincenzo Tegazzin; Frank Lehmann-Horn
Journal:  Orphanet J Rare Dis       Date:  2014-01-16       Impact factor: 4.123
  2 in total

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