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Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia.
Xu, Le; Harms, Frederike L; Chirasani, Venkat R; Pasek, Daniel A; Kortüm, Fanny; Meinecke, Peter; Dokholyan, Nikolay V; Kutsche, Kerstin; Meissner, Gerhard.
Affiliation
  • Xu L; Department of Biochemistry and Biophysics, University of North Carolina, Chapel Hill, NC 27599-7260, United States.
  • Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Chirasani VR; Departments of Pharmacology, and Biochemistry & Molecular Biology, Penn State College of Medicine, Hershey, PA 17033-0850, United States.
  • Pasek DA; Department of Biochemistry and Biophysics, University of North Carolina, Chapel Hill, NC 27599-7260, United States.
  • Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Meinecke P; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Dokholyan NV; Departments of Pharmacology, and Biochemistry & Molecular Biology, Penn State College of Medicine, Hershey, PA 17033-0850, United States.
  • Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: kkutsche@uke.de.
  • Meissner G; Department of Biochemistry and Biophysics, University of North Carolina, Chapel Hill, NC 27599-7260, United States. Electronic address: meissner@med.unc.edu.
Cell Calcium ; 87: 102182, 2020 05.
Article in En | MEDLINE | ID: mdl-32097819
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pterygium / Limb Deformities, Congenital / Muscle, Skeletal / Ryanodine Receptor Calcium Release Channel / Genetic Diseases, X-Linked / Siblings / Fetal Growth Retardation Type of study: Prognostic_studies Limits: Animals / Female / Humans / Male Language: En Journal: Cell Calcium Year: 2020 Document type: Article Affiliation country: United States Country of publication: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pterygium / Limb Deformities, Congenital / Muscle, Skeletal / Ryanodine Receptor Calcium Release Channel / Genetic Diseases, X-Linked / Siblings / Fetal Growth Retardation Type of study: Prognostic_studies Limits: Animals / Female / Humans / Male Language: En Journal: Cell Calcium Year: 2020 Document type: Article Affiliation country: United States Country of publication: Netherlands