The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency.

Using a human dihydropteridine reductase (hDHPR) cDNA probe we have detected two AvaII and one MspI restriction fragment length polymorphisms (RFLPs). We show that these RFLPs are in disequilibrium and calculate that approximately 60% of Caucasians are heterozygous for at least one RFLP. We demonstr...

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Bibliographic Details
Published in:J Med Genet
Main Authors: Dahl, H H, Wake, S, Cotton, R G, Danks, D M
Format: Artigo
Language:Inglês
Published: BMJ Publishing Group 1988
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015417/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2895188/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.25.1.25
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