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Journal article

Detection rates and phenotypic spectrum of m.3243A > G in the MT-TL1 gene: A molecular diagnostic laboratory perspective

J Chin, R Marotta, M Chiotis, EH Allan, SJ Collins

Mitochondrion | ELSEVIER SCI LTD | Published : 2014

DOI: 10.1016/j.mito.2014.05.005

University of Melbourne Researchers

Steven Collins's Profile Picture
Steven Collins Author Medicine - Royal Melbourne Hospital

Elizabeth Allan's Profile Picture
Elizabeth Allan Author Medicine - St Vincent's Hospital

Grants

Funding Acknowledgements

St. Vincent's Melbourne Neuromuscular Diagnostic Laboratory is funded by the Department of Human Services, Victoria, Australia.

Citation metrics

12Web of Science
12Scopus
15Dimensions

Keywords

Adolescent
Humans
Aged
Adult
Encephalomyopathies
Science & Technology
Mitochondrial Trna(leu(uur)) Gene
Male
Melas Mutation
Child
Melas Syndrome
Point Mutation
Dna Mutations
Genes, Mitochondrial
Genetics & Heredity
Young Adult
Stroke-Like Episodes
Mtdna Mutation
A3243g Mutation
Prevalence
Rna, Transfer, Leu
Mitochondria
Trna Leucine
Dna, Mitochondrial
Middle Aged
Lactic-Acidosis
M.3243a > G Point Mutation
Encephalopathy
M.3243a>g Point Mutation
Female
Genetic Testing
Life Sciences & Biomedicine
Cell Biology

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