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Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.
Marshall, Aren E; Brady, Lauren; Yeh, Ed; Mears, Alan J; Lacaria, Melanie; Chakraborty, Pranesh; Tarnopolsky, Mark A; Kernohan, Kristin D.
Affiliation
  • Marshall AE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Brady L; Division of Neuromuscular & Neurometabolic Disorders, Department of Pediatrics, McMaster University, Hamilton Health Sciences Centre, Hamilton, Ontario, Canada.
  • Yeh E; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Mears AJ; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Lacaria M; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Chakraborty P; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Tarnopolsky MA; Division of Neuromuscular & Neurometabolic Disorders, Department of Pediatrics, McMaster University, Hamilton Health Sciences Centre, Hamilton, Ontario, Canada.
  • Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Am J Med Genet A ; 194(7): e63590, 2024 07.
Article in En | MEDLINE | ID: mdl-38477541
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Electron Transport Complex I / High-Throughput Nucleotide Sequencing / Heterozygote Limits: Child / Female / Humans / Male Language: En Journal: Am J Med Genet A / Am. j. med. genet., Part A / American journal of medical genetics. Part A Journal subject: GENETICA MEDICA Year: 2024 Document type: Article Affiliation country: Canadá Country of publication: Estados Unidos
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Electron Transport Complex I / High-Throughput Nucleotide Sequencing / Heterozygote Limits: Child / Female / Humans / Male Language: En Journal: Am J Med Genet A / Am. j. med. genet., Part A / American journal of medical genetics. Part A Journal subject: GENETICA MEDICA Year: 2024 Document type: Article Affiliation country: Canadá Country of publication: Estados Unidos