Search

Your search keyword '"Fruscione F"' showing total 1 results
Start Over Author "Fruscione F" Database Academic Search Index
1 results on '"Fruscione F"'

1. Novel FAM126A mutations in hypomyelination and congenital cataract disease.

Author

Traverso, M., Assereto, S., Gazzerro, E., Savasta, S., Abdalla, E.M., Rossi, A., Baldassari, S., Fruscione, F., Ruffinazzi, G., Fassad, M.R., El Beheiry, A., Minetti, C., Zara, F., and Biancheri, R.

Subjects
*MYELINATION, *CONGENITAL disorders, *CATARACT, *MISSENSE mutation, *NEUROLOGY, *GENE expression
Abstract

Highlights: [•] Novel mutations in FAM126A have been identified. [•] Further genotype-phenotype correlations of HCC (OMIM #610532) have been defined. [•] FAM126A missense mutations are likely to preserve some neurological functions. [ABSTRACT FROM AUTHOR]

Published
2013
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results