Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

Spontaneously arising mouse mutations have served as the foundation for understanding gene function for more than 100 years. We have used exome sequencing in an effort to identify the causative mutations for 172 distinct, spontaneously arising mouse models of Mendelian disorders, including a broad r...

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Detalles Bibliográficos
Autores principales: Fairfield, Heather, Srivastava, Anuj, Ananda, Guruprasad, Liu, Rangjiao, Kircher, Martin, Lakshminarayana, Anuradha, Harris, Belinda S., Karst, Son Yong, Dionne, Louise A., Kane, Coleen C., Curtain, Michelle, Berry, Melissa L., Ward-Bailey, Patricia F., Greenstein, Ian, Byers, Candice, Czechanski, Anne, Sharp, Jocelyn, Palmer, Kristina, Gudis, Polyxeni, Martin, Whitney, Tadenev, Abby, Bogdanik, Laurent, Pratt, C. Herbert, Chang, Bo, Schroeder, David G., Cox, Gregory A., Cliften, Paul, Milbrandt, Jeffrey, Murray, Stephen, Burgess, Robert, Bergstrom, David E., Donahue, Leah Rae, Hamamy, Hanan, Masri, Amira, Santoni, Federico A., Makrythanasis, Periklis, Antonarakis, Stylianos E., Shendure, Jay, Reinholdt, Laura G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484392/
https://www.ncbi.nlm.nih.gov/pubmed/25917818
http://dx.doi.org/10.1101/gr.186882.114

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