A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disorders
Non-invasive prenatal testing (NIPT) to date is used in the clinic primarily to detect foetal aneuploidy. Few studies so far have focused on the detection of monogenic autosomal recessive disorders where mother and foetus carry the same mutation. In particular, NIPT is currently not available for th...
| Main Authors: | , , , , , , |
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| Format: | Working paper |
| Language: | English |
| Published: |
Cold Spring Harbor Laboratory
2019
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