Related Experiment Video
Updated: Oct 19, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250.
R Haas1, B Gutierrez-Rivero, J Knoche
1Abteilung Gastroenterologie und Hepatologie, Medizinische Hochschule Hannover, Germany.
Abstract:
In order to obtain novel mutations in the recently discovered Wilson disease gene, we screened 5 unrelated German individuals for mutations in the 21 exons and their flanking intronic sequences. We detected 9 mutations affecting the Wilson disease gene. Four of those, designated 802-808delTGTAAGT, 2008-2013delTATATG, Cys985Thr, and Ile1148Thr have not yet been reported. One patient had a homozygous mutation whereas the remaining four subjects were compound heterozygous. Therefore these data confirm, that mutations causing Wilson disease are frequently found in affected subjects and they are very heterogenous.
More Related Videos
10:41Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
Published on: March 29, 2017
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Related Concept Videos
Pharmacogenomics: Identification of New Drug Targets
Single Nucleotide Polymorphisms-SNPs