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Academic Journal

RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families.

  • Authors : Zullo A; CEINGE-Advanced Biotechnologies, Via Gaetano Salvatore 486, 80145 Naples, Italy.; Department of Sciences and Technologies, University of Sannio, Via Port'Arsa 11, 82100 Benevento, Italy.

Subjects: Family* ; Gene Expression Regulation* ; Genetic Variation*

  • Source: BioMed research international [Biomed Res Int] 2019 Apr 21; Vol. 2019, pp. 7638946. Date of Electronic Publication: 2019 Apr 21 (Print Publication: 2019).Publisher: Hindawi Pub. Co Country of Publication: United States NLM ID: 101600173 Publication Model: eCollection Cited Medium: Internet ISSN:

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Academic Journal

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

  • Authors : Fortunato G; Dipartimento di Biochimica e Biotecnologie Mediche, Università Federico II di Napoli and CEINGE Biotecnologie Avanzate, Naples, Italy.; Berruti R

Subjects: Malignant Hyperthermia/Malignant Hyperthermia/Malignant Hyperthermia/*genetics ; Ryanodine Receptor Calcium Release Channel/Ryanodine Receptor Calcium Release Channel/Ryanodine Receptor Calcium Release Channel/*genetics; Amino Acid Substitution

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2000 Feb; Vol. 8 (2), pp. 149-52.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Print ISSN: 1018-4813

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