A novel missense mutation (R712L) adjacent to the ?active thiol? region of the cardiac ?-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family
2000; Wiley; Volume: 15; Issue: 3 Linguagem: Inglês
10.1002/(sici)1098-1004(200003)15
ISSN1098-1004
AutoresSakthivel Sadayappan, Pulavelil Kurian Joseph, Jagan Mohan Tharakan, Hans-Peter Vosberg, C. Rajamanickam,
Tópico(s)Cardiovascular Function and Risk Factors
ResumoHuman MutationVolume 15, Issue 3 p. 298-299 Mutation and Polymorphism Report A novel missense mutation (R712L) adjacent to the "active thiol" region of the cardiac β-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family † Sadayappan Sakthivel, Sadayappan Sakthivel Department of Biochemistry, School of Biological Sciences, Madurai Kamaraj University, Madurai 625 021, India Max-Planck-Institute for Physiological and Clinical Research, Department of Experimental Cardiology, Benekestr. 2, D-61231 Bad Nauheim, GermanySearch for more papers by this authorPulavelil Kurian Joseph, Pulavelil Kurian Joseph Department of Cardiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695 011, IndiaSearch for more papers by this authorJagan Mohan Tharakan, Jagan Mohan Tharakan Department of Cardiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695 011, IndiaSearch for more papers by this authorHans-Peter Vosberg, Hans-Peter Vosberg Max-Planck-Institute for Physiological and Clinical Research, Department of Experimental Cardiology, Benekestr. 2, D-61231 Bad Nauheim, GermanySearch for more papers by this authorChellam Rajamanickam, Chellam Rajamanickam Department of Biochemistry, School of Biological Sciences, Madurai Kamaraj University, Madurai 625 021, IndiaSearch for more papers by this author Sadayappan Sakthivel, Sadayappan Sakthivel Department of Biochemistry, School of Biological Sciences, Madurai Kamaraj University, Madurai 625 021, India Max-Planck-Institute for Physiological and Clinical Research, Department of Experimental Cardiology, Benekestr. 2, D-61231 Bad Nauheim, GermanySearch for more papers by this authorPulavelil Kurian Joseph, Pulavelil Kurian Joseph Department of Cardiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695 011, IndiaSearch for more papers by this authorJagan Mohan Tharakan, Jagan Mohan Tharakan Department of Cardiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695 011, IndiaSearch for more papers by this authorHans-Peter Vosberg, Hans-Peter Vosberg Max-Planck-Institute for Physiological and Clinical Research, Department of Experimental Cardiology, Benekestr. 2, D-61231 Bad Nauheim, GermanySearch for more papers by this authorChellam Rajamanickam, Chellam Rajamanickam Department of Biochemistry, School of Biological Sciences, Madurai Kamaraj University, Madurai 625 021, IndiaSearch for more papers by this author First published: 10 February 2000 https://doi.org/10.1002/(SICI)1098-1004(200003)15:3 3.0.CO;2-7Citations: 6 † Communicated by: Mark H. Paalman ‡ Online Citation: Human Mutation, Mutation and Polymorphism Report #98 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/mpr98.pdf § Acknowledgments:Sakthivel was supported by fellowships from the Deutscher Akademischer Austauschdienst (DAAD), and the Max-Planck-Gesellschaft, Germany. The genetic analyses of family MT was carried out at the Max-Planck-Institute for Physiological and Clinical Research, Department of Experimental Cardiology, Bad Nauheim, Germany. AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article.Citing Literature Volume15, Issue3March 2000Pages 298-299 RelatedInformation
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