De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa

BACKGROUND: Retinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease gene discovery. In this study, exome sequencin...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:PLoS One
Päätekijät: Strom, Samuel P., Clark, Michael J., Martinez, Ariadna, Garcia, Sarah, Abelazeem, Amira A., Matynia, Anna, Parikh, Sachin, Sullivan, Lori S., Bowne, Sara J., Daiger, Stephen P., Gorin, Michael B.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2016
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4786330/
https://ncbi.nlm.nih.gov/pubmed/26964041
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0150944
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