Next-generation sequencing of patients with congenital anosmia

We performed whole exome or genome sequencing in eight multiply affected families with ostensibly isolated congenital anosmia. Hypothesis-free analyses based on the assumption of fully penetrant recessive/dominant/X-linked models obtained no strong single candidate variant in any of these families....

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Alkelai, Anna, Olender, Tsviya, Dode, Catherine, Shushan, Sagit, Tatarskyy, Pavel, Furman-Haran, Edna, Boyko, Valery, Gross-Isseroff, Ruth, Halvorsen, Matthew, Greenbaum, Lior, Milgrom, Roni, Yamada, Kazuya, Haneishi, Ayumi, Blau, Ilan, Lancet, Doron
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5865213/
https://ncbi.nlm.nih.gov/pubmed/29255181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0014-1
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