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еНаука >  Резултати >  New Compound Heterozygous Splice Site Mutations of the Skeletal Muscle Ryanodine Receptor (RYR1) Gene Manifest Fetal Akinesia: A Linkage with Congenital Myopathies
Title: New Compound Heterozygous Splice Site Mutations of the Skeletal Muscle Ryanodine Receptor (RYR1) Gene Manifest Fetal Akinesia: A Linkage with Congenital Myopathies
Authors: Zečević, Nebojša  ; Arsenijević, Vladimir; Manolakos, Emmanouil; Papoulidis, Ioannis; Theocharis, Georgios; Sartsidis, Anastasios; Tryfon, Tsagas Tryfon; Tziotis, Ioannis; Dagklis, Themistoklis; Kalogeros, Georgios;
Tsakiridis, Ioannis; Filipović-Stanković, Milica; Eleftheriades, Makarios;
Issue Date: 2020
Publication: Molecular syndromology
ISSN: 1661-8769 Molecular Syndromology Search Idenfier
Publisher: Basel : S. Karger
Type: Article
Collation: vol. 11 br. 2 str. 104-109
DOI: 10.1159/000507034
WoS-ID: 000542588200007
Scopus-ID: 2-s2.0-85083195491
PMID: 32655342
PMCID: PMC7325118
URI: https://enauka.gov.rs/handle/123456789/813308
URL: https://karger.com/msy/article/11/2/104/205015/New-Compound-Heterozygous-Splice-Site-Mutations-of
Metadata source: (Preuzeto iz Nasi u WoS)
M-category: 
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