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Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma—case report |
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| Authors: | Y Li W Holzgreve G C M L Page-Christiaens J J P Gille S Hahn |
| Institution: | 1. Laboratory for Prenatal Medicine, University Women's Hospital/Department of Research, Basel, Switzerland;2. Division of Perinatology and Gynaecology of the University Medical Center Utrecht, The Netherlands;3. Molecular Diagnostics Laboratory, Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands |
| Abstract: | |
| Keywords: | prenatal diagnosis point mutation fetal DNA maternal plasma |