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...

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Hlavní autoři: Marchington, D, Malik, S, Banerjee, A, Turner, K, Samuels, D, Macaulay, V, Oakeshott, P, Fratter, C, Kennedy, S, Poulton, J
Médium: Journal article
Jazyk:English
Vydáno: 2010