WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome

BACKGROUND: Wolfram syndrome (WFS) is a rare disorder characterised by childhood-onset diabetes mellitus and progressive optic atrophy. Most patients have variants in the WFS1 gene. We undertook functional studies of WFS1 variants and correlated these with WFS1 protein expression and phenotype. METH...

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Detalles Bibliográficos
Autores principales: Hu, Kun, Zatyka, Malgorzata, Astuti, Dewi, Beer, Nicola, Dias, Renuka P, Kulkarni, Archana, Ainsworth, John, Wright, Benjamin, Majander, Anna, Yu-Wai-Man, Patrick, Williams, Denise, Barrett, Timothy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Genotype-Phenotype Correlations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8685651/
https://www.ncbi.nlm.nih.gov/pubmed/34006618
http://dx.doi.org/10.1136/jmedgenet-2020-107257

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8685651/
https://www.ncbi.nlm.nih.gov/pubmed/34006618
http://dx.doi.org/10.1136/jmedgenet-2020-107257

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