Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

We identified four different missense mutations in the single-exon gene MAB21L2 in eight individuals with bilateral eye malformations from five unrelated families via three independent exome sequencing projects. Three mutational events altered the same amino acid (Arg51), and two were identical de n...

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Huvudupphovsmän: Rainger, Joe, Pehlivan, Davut, Johansson, Stefan, Bengani, Hemant, Sanchez-Pulido, Luis, Williamson, Kathleen A., Ture, Mehmet, Barker, Heather, Rosendahl, Karen, Spranger, Jürgen, Horn, Denise, Meynert, Alison, Floyd, James A.B., Prescott, Trine, Anderson, Carl A., Rainger, Jacqueline K., Karaca, Ender, Gonzaga-Jauregui, Claudia, Jhangiani, Shalini, Muzny, Donna M., Seawright, Anne, Soares, Dinesh C., Kharbanda, Mira, Murday, Victoria, Finch, Andrew, Gibbs, Richard A., van Heyningen, Veronica, Taylor, Martin S., Yakut, Tahsin, Knappskog, Per M., Hurles, Matthew E., Ponting, Chris P., Lupski, James R., Houge, Gunnar, FitzPatrick, David R.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2014
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4121478/
https://ncbi.nlm.nih.gov/pubmed/24906020
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.05.005
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