Evidence from human oocytes for a genetic bottleneck in an mtDNA disease.

We have examined oocytes from a patient with Kearn-Sayre syndrome caused by mtDNA rearrangements. In mtDNA diseases, mutant and wild-type mtDNA frequently coexist in affected individuals (the condition of heteroplasmy). The proportion of mutant mtDNA transmitted from mother to offspring is variable...

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Bibliografske podrobnosti
Main Authors: Marchington, D R, Macaulay, V, Hartshorne, G M, Barlow, D, Poulton, J
Format: Artigo
Jezik:Inglês
Izdano: 1998
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377397/
https://ncbi.nlm.nih.gov/pubmed/9718339
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