Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.

Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.. High prevalence of the H1069Q mutation in East german patients with Wilson

In summary, we report a novel UMOD mutation in a Brazilian family with 11 affected members, and we discuss the importance of performing genetic testing in families with inherited

(2013) Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families.. This is an open-access article distributed under the terms of the Creative

We performed the exome capture sequencing of the normal mucosa, adenoma and adenocarcinoma tissues from the same patient and sequenced the identified mutations in additional 73

For a focused evaluation of the whole-exome data, a list of 272 genes arising from three functional criteria of inclusion was used: ten genes known to be causative for CHI

Serum RBP4 and transthyretin (TTR) levels in affected and unaffected family members. Serum RBP4 and TTR levels were examined by western blot analysis as described in Methods. A)

In this study, a number of possible genes were initially found to be associated with KBD, including genes of inflammatory factors, SELV and TRNAU1 genes, as well as genes derived

Exome sequencing identified nine heterozygous non-synony- mous variants (six missense variants, two in-frame microdeletions, and one frameshift variant) that were specific to groups 1