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Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers.

We report on two cases of prenatal diagnosis of myotonic dystrophy (DM), using flanking markers APOC2 or CKMM on the proximal side and D19S51 on the distal side. By double digestion (TaqI and NcoI) of PCR amplified CKMM, the informativeness was increased from a PIC value of 0.57 to 0.69. Altogether,...

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Bibliografske podrobnosti
izdano v:J Med Genet
Main Authors: Lavedan, C, Hofmann, H, Shelbourne, P, Duros, C, Savoy, D, Johnson, K, Junien, C
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 1991
Teme:
Online dostop:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016774/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2002492/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.2.89
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