Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

The combination of family-based linkage analysis with high-throughput sequencing is a powerful approach to identifying rare genetic variants that contribute to genetically heterogeneous syndromes. Using parametric multipoint linkage analysis and whole exome sequencing, we have identified a gene resp...

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Bibliografiset tiedot
Julkaisussa:Eur J Hum Genet
Päätekijät: Ercan-Sencicek, A Gulhan, Jambi, Samira, Franjic, Daniel, Nishimura, Sayoko, Li, Mingfeng, El-Fishawy, Paul, Morgan, Thomas M, Sanders, Stephan J, Bilguvar, Kaya, Suri, Mohnish, Johnson, Michele H, Gupta, Abha R, Yuksel, Zafer, Mane, Shrikant, Grigorenko, Elena, Picciotto, Marina, Alberts, Arthur S, Gunel, Murat, Šestan, Nenad, State, Matthew W
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2015
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4297910/
https://ncbi.nlm.nih.gov/pubmed/24781755
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.82
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