Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.

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作者： Sanna,Puusepp ^[1] ; Karit,Reinson ^[2] ; Sander,Pajusalu ^[1] ; Ülle,Murumets ^[2] ; Eve,Õiglane-Shlik ^[1] ; Reet,Rein ^[2] ; Inga,Talvik ^[2] ; Richard J,Rodenburg ^[3] ; Katrin,Õunap ^[4]

作者单位： Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 2 L. Puusepa Street, Tartu 51014, Estonia. ^[1] Department of Clinical Genetics, United Laboratories, Tartu University Hospital, 2 L. Puusepa Street, Tartu 51014, Estonia. ^[2] Children's Clinic, Tartu University Hospital, 6 Lunini Street, Tartu 51014, Estonia. ^[3] Department of Pediatrics, Institute of Clinical Medicine, University of Tartu, 6 Lunini Street, Tartu 51014, Estonia. ^[4] Tallinn Children's Hospital, 28 Tervise Street, Tallinn 13419, Estonia. ^[5] Radboud Center for Mitochondrial Medicine, 830 Translational Metabolic Laboratory, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands. ^[6]

关键词 Mitochondrial disorders Muscle biopsy Whole exome sequencing mtDNA sequencing

DOI 10.1016/j.ymgmr.2018.03.004

PMID 30009132

发布时间 2024-03-28

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Molecular genetics and metabolism reports

2018年15卷

80-89页

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Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.

Molecular genetics and metabolism reports

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Molecular genetics and metabolism reports

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Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.

Molecular genetics and metabolism reports

相似文献

Molecular genetics and metabolism reports

相关期刊

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