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...
| 主要な著者: | , , , , , , , , , |
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| フォーマット: | Journal article |
| 言語: | English |
| 出版事項: |
2010
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