Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.

Mitochondrial genetics is complicated by heteroplasmy, or mutant load, which may be from 1%-99%, and thus may produce a gene dosage-type effect. Limited data are available for genotype/phenotype correlations in disorders caused by mtDNA mutations; therefore, prenatal diagnosis for mtDNA mutations ha...

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Autores principales: White, S L, Collins, V R, Wolfe, R, Cleary, M A, Shanske, S, DiMauro, S, Dahl, H H, Thorburn, D R
Formato: Artigo
Lenguaje:Inglês
Publicado: 1999
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377946/
https://ncbi.nlm.nih.gov/pubmed/10417290
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