Search

Your search keyword '"JUP"' showing total 1 results
Start Over Descriptor "JUP" Journal clinical genetics
1 results on '"JUP"'

1. Novel founder mutation in French-Canadian families with Naxos disease.

Author

Marino, T. Cruz, Maranda, B., Leblanc, J., Pratte, A., Barabas, M., Dupéré, A., and Lévesque, S.

Subjects
*EXONS (Genetics)
Abstract

The article describes the cases of French-Canadian families with Naxos disease (NXD) linked to arrhythmogenic right ventricular cardiomyopathy (ARVC), palmoplantar keratoderma (PPK) and peculiar woolly hair. Other characteristics of the family members include homozygous mutation in the exon 5 of JUP gene, typical cutaneous and hair, and whites of French-Canadian descent. It is recommended that further studies are made to ascertain the cause of the genetic mutation in the heterozygous state.

Published
2017
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results