Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants

BACKGROUND: Babies of women with heterozygous pathogenic glucokinase (GCK) variants causing mild fasting hyperglycemia are at risk of macrosomia if they do not inherit the variant. Conversely, babies who inherit a pathogenic hepatocyte nuclear factor 4a (HNF4A) diabetes variant are at increased risk...

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Udgivet i:Clin Chem
Main Authors: Caswell, Richard C., Snowsill, Tristan, Houghton, Jayne A.L., Chakera, Ali J., Shepherd, Maggie H., Laver, Thomas W., Knight, Bridget A., Wright, David, Hattersley, Andrew T., Ellard, Sian
Format: Artigo
Sprog:Inglês
Udgivet: 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7611030/
https://ncbi.nlm.nih.gov/pubmed/32533152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/clinchem/hvaa104
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