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Stability of the m.8993T→G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome

BACKGROUND: Mitochondrial DNA (mtDNA) mutations cause a wide range of serious genetic diseases with maternal inheritance. Because of the high transmission risk and the absence of therapy in these disorders, at‐risk couples often ask for prenatal diagnosis (PND). However, because heteroplasmy load (c...

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Dettagli Bibliografici
Autori principali: Steffann, J, Gigarel, N, Corcos, J, Bonnière, M, Encha‐Razavi, F, Sinico, M, Prevot, S, Dumez, Y, Yamgnane, A, Frydman, R, Munnich, A, Bonnefont, J P
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2007
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597968/
https://ncbi.nlm.nih.gov/pubmed/17545557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.048553
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