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Identification of Novel Microsatellite Markers Flanking the SMN1 and SMN2 Duplicated Region and Inclusion Into a Single-Tube Tridecaplex Panel for Haplotype-Based Preimplantation Genetic Testing of Spinal Muscular Atrophy

Preimplantation genetic testing for the monogenic disorder (PGT-M) spinal muscular atrophy (SMA) is significantly improved by supplementation of SMN1 deletion detection with marker-based linkage analysis. To expand the availability of informative markers for PGT-M of SMA, we identified novel non-dup...

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Publicat a:Front Genet
Autors principals: Zhao, Mingjue, Lian, Mulias, Cheah, Felicia S.H., Tan, Arnold S.C., Agarwal, Anupriya, Chong, Samuel S.
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2019
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6851269/
https://ncbi.nlm.nih.gov/pubmed/31781167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.01105
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