Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping

Huntington disease (HD) is a lethal neurodegenerative disorder caused by expansion of a CAG repeat within the huntingtin (HTT) gene. Disease prevention can be facilitated by preimplantation genetic testing for this monogenic disorder (PGT-M). We developed a strategy for HD PGT-M, involving whole gen...

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Détails bibliographiques
Publié dans:Sci Rep
Auteurs principaux: Zhao, Mingjue, Cheah, Felicia Siew Hong, Tan, Arnold Sia Chye, Lian, Mulias, Phang, Gui Ping, Agarwal, Anupriya, Chong, Samuel S.
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2019
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6848083/
https://ncbi.nlm.nih.gov/pubmed/31712634
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-52769-3
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