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Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis...

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1924595479

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders

About this item

Full title

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders

Publisher

England: BMJ Publishing Group LTD

Journal title

Journal of medical genetics, 2018-02, Vol.55 (2), p.131-136

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group LTD

More information

Scope and Contents

Contents

BackgroundMitochondrial DNA (mtDNA) disorders have a high clinical variability, mainly explained by variation of the mutant load across tissues. The high recurrence risk of these serious diseases commonly results in requests from at-risk couples for prenatal diagnosis (PND), based on determination of the mutant load on a chorionic villous sample (C...

Alternative Titles

Full title

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1924595479

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1924595479

Other Identifiers

ISSN

0022-2593

E-ISSN

1468-6244

DOI

10.1136/jmedgenet-2017-104615

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