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Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondr...

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondr...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3355259

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease

About this item

Full title

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease

Publisher

Basingstoke: Nature Publishing Group

Journal title

European journal of human genetics : EJHG, 2012-06, Vol.20 (6), p.650-656

Language

English

Formats

Publication information

Publisher

Basingstoke: Nature Publishing Group

More information

Scope and Contents

Contents

Mitochondrial disease can be attributed to both mitochondrial and nuclear gene mutations. It has a heterogeneous clinical and biochemical profile, which is compounded by the diversity of the genetic background. Disease-based epidemiological information has expanded significantly in recent decades, but little information is known that clarifies the...

Alternative Titles

Full title

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3355259

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3355259

Other Identifiers

ISSN

1018-4813,1476-5438

E-ISSN

1476-5438

DOI

10.1038/ejhg.2011.262

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