Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage

Although technically possible, few clinical laboratories across the world have implemented non-invasive prenatal diagnosis (NIPD) for selected single-gene disorders, mostly owing to the elevated costs incurred. Having previously proven that NIPD for X-linked disorders can be feasibly implemented in...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Parks, Michael, Court, Samantha, Bowns, Benjamin, Cleary, Siobhan, Clokie, Samuel, Hewitt, Julie, Williams, Denise, Cole, Trevor, MacDonald, Fiona, Griffiths, Mike, Allen, Stephanie
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2017
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5386415/
https://ncbi.nlm.nih.gov/pubmed/28120840
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.195
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