Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

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Naziv:	Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia
Autori:	Vermeer, Sascha; Hoischen, Alexander; Meijer, Rowdy P.P.; Gilissen, Christian; Neveling, Kornelia; Wieskamp, Nienke; de, Brouwer Arjan; Koenig, Michel; Anheim, Mathieu; Assoum, Mirna; Drouot, Nathalie; Todorovic, Slobodanka; Milić Rašić, Vedrana ; Lochmüller, Hanns; Stevanin, Giovanni; Goizet, Cyril; David, Albert; Durr, Alexandra; Brice, Alexis; Kremer, Berry; van, de Warrenburg Bart P.C.; Schijvenaars, Mascha M.V.A.P.; Heister, Angelien; Kwint, Michael; Arts, Peer; van, der Wijst Jenny; Veltman, Joris; Kamsteeg, Erik-Jan; Scheffer, Hans; Knoers, Nine;
Godina:	2010
Publikacija:	The American Journal of Human Genetics
ISSN:	0002-9297 American Journal of Human Genetics Pretraži identifikator
Tip rezultata:	Naučni članak
Kolacija:	vol. 87 br. 6 str. 813-819
DOI:	10.1016/j.ajhg.2010.10.015
WoS-ID:	000285564600007
Scopus-ID:	2-s2.0-78649774853
PMID:	21092923
PMCID:	PMC2997370
URI:	https://enauka.gov.rs/handle/123456789/222051
Izvor metapodataka:	Migrirano iz RIS podataka
M-kategorija:	21a+M21a+ - Vodeći međunarodni časopis kategorije M21a+

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