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) heteroplasmy-the coexistence of mutant and normal mtDNA in the same person-and (b) the so-called mitochon...
Prif Awduron: | Marchington, D, Malik, S, Banerjee, A, Turner, K, Samuels, D, Macaulay, V, Oakeshott, P, Fratter, C, Kennedy, S, Poulton, J |
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Fformat: | Journal article |
Iaith: | English |
Cyhoeddwyd: |
2010
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Eitemau Tebyg
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