Information for genetic management of mtDNA disease: Sampling pathogenic mtDNA mutants in the human germline and in placenta

Background: Families with a child who died of severe, maternally inherited mitochondrial DNA (mtDNA) disease need information on recurrence risk. Estimating this risk is difficult because of (a) heteroplasmyd - the coexistence of mutant and normal mtDNA in the same persond - and (b) the so-called mi...

Täydet tiedot

Bibliografiset tiedot
Päätekijät: Marchington, D, Malik, S, Banerjee, A, Turner, K, Samuels, D, Macaulay, V, Oakeshott, P, Fratter, C, Kennedy, S, Poulton, J
Aineistotyyppi: Journal article
Kieli:English
Julkaistu: 2010