In vivo bioassay to test the pathogenicity of missense human AIP variants

BACKGROUND: Heterozygous germline loss-of-function mutations in the aryl hydrocarbon receptor-interacting protein gene (AIP) predispose to childhood-onset pituitary tumours. The pathogenicity of missense variants may pose difficulties for genetic counselling and family follow-up. OBJECTIVE: To devel...

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Detalles Bibliográficos
Autores principales: Aflorei, Elena Daniela, Klapholz, Benjamin, Chen, Chenghao, Radian, Serban, Dragu, Anca Neluta, Moderau, Nina, Prodromou, Chrisostomos, Ribeiro, Paulo S, Stanewsky, Ralf, Korbonits, Márta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2018
Materias:
Diagnostics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073908/
https://www.ncbi.nlm.nih.gov/pubmed/29632148
http://dx.doi.org/10.1136/jmedgenet-2017-105191

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073908/
https://www.ncbi.nlm.nih.gov/pubmed/29632148
http://dx.doi.org/10.1136/jmedgenet-2017-105191

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