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HETEROPLASMIC [1 record]

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Record 1 1998-12-02

English

Subject field(s)
  • Genetics
CONT

The detection of non-Mendelian inheritance in man. How to detect and interpret variation in gene structure or expression that does not or might not follow a Mendelian mode of inheritance: mitochondrial mutations (particularly when heteroplasmic); uniparental disomy (full or regional, heterodisomy, homodisomy, isodisomy, pseudodisomy); unstable DNA (including triplet repeat regions); imprinting; X chromosome inactivation mutations or effects; positional effects; cis-trans effects, singleton birth after regression of an MZ twin, chimerism, parthenogenesis, aneuploid reproduction and recombination, RNA editing, etc.

French

Domaine(s)
  • Génétique
CONT

Chez un enfant né d'un ovule hétéroplasmique, certains tissus sont enrichis en ADN mitochondrial normal, tandis que d'autres sont enrichis en ADN muté.

Spanish

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