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Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

PURPOSE: Mendelian phenotypes in humans vary from benign variants to lethal disorders. Embryonic lethal phenotypes that are similar to what has been known for a long time in mice have remained largely unknown because of the difficulty in arriving at a molecular diagnosis. The purpose of this study i...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Shamseldin, Hanan E., Swaid, Abdulrahman, Alkuraya, Fowzan S.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2013
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3908556/
https://ncbi.nlm.nih.gov/pubmed/23037934
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2012.130
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