A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability

Variants in MFSD8 can cause neuronal ceroid lipofuscinoses (NCLs) as well as nonsyndromic retinopathy. The mutation spectrum includes mainly missense and stop variants, but splice sites and frameshift variants have also been reported. To date, apparently synonymous substitutions have not been shown...

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Detalles Bibliográficos
Autores principales: Reith, Milda, Zeltner, Lena, Schäferhoff, Karin, Witt, Dennis, Zuleger, Theresia, Haack, Tobias B., Bornemann, Antje, Alber, Michael, Ruf, Susanne, Schoels, Ludger, Stingl, Katarina, Weisschuh, Nicole
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8877174/
https://www.ncbi.nlm.nih.gov/pubmed/35216386
http://dx.doi.org/10.3390/ijms23042271

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8877174/
https://www.ncbi.nlm.nih.gov/pubmed/35216386
http://dx.doi.org/10.3390/ijms23042271

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