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eNauka >  Rezultati >  Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
Naziv: Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
Autori: 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;
Godina: 2017
Publikacija: Orphanet journal of rare diseases
ISSN: 1750-1172 Orphanet Journal of Rare Diseases Pretraži identifikator
Izdavač: [London] : BioMed Central
Tip rezultata: Naučni članak
Kolacija: 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
Izvor metapodataka: Migrirano iz RIS podataka
M-kategorija: 
21M21 - Vodeći međunarodni časopis kategorije M21

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