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eNauka >  Results >  Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
Title: Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
Authors: Johnson, Katherine; Töpf, Ana; Bertoli, Marta; Phillips, Lauren; Claeys, Kristl G.; Stojanović-Rakočević, Vidosava ; Perić, Stojan Z.  ; Hahn, Andreas; Maddison, Paul; Akay, Ela;
Bastian, Alexandra E.; Łusakowska, Anna; Kostera-Pruszczyk, Anna; Lek, Monkol; Xu, Liwen; MacArthur, Daniel G.; Straub, Volker;
Issue Date: 2017
Publication: Orphanet journal of rare diseases
ISSN: 1750-1172 Orphanet Journal of Rare Diseases Search Idenfier
Publisher: [London] : BioMed Central
Type: Article
Collation: vol. 12 br. 1 str. 173
DOI: 10.1186/s13023-017-0722-1
WoS-ID: 000415583300001
Scopus-ID: 2-s2.0-85034448583
PMID: 29149851
PMCID: PMC5693551
URI: https://enauka.gov.rs/handle/123456789/286125
URL: https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0722-1
Metadata source: Migrirano iz RIS podataka
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