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

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 4α (HNF4A) diabetes variant are at increased risk of high bir...

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Main Authors: Richard Caswell, Tristan Snowsill, Jayne Houghton, Ali Chakera, Maggie Shepherd, Thomas W. Laver, Bridget Knight, D. Wright, Andrew T. Hattersley, Sian Ellard
格式: Artigo
语言:英语
出版: 2020
在线阅读:https://doi.org/10.1093/clinchem/hvaa104
https://academic.oup.com/clinchem/article-pdf/66/7/958/36893475/hvaa104.pdf
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