… 2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred … The available genetic data
regarding these mutations were … Functional analysis of R75Q mutation in the gene coding for …

… In other cases, mutations in specific genes have been examined on the basis of previously
found mutations in the same ethnic groups. These include the more common mutations found …

… The most common syndromes that are accompanied by hearing loss include Pendred,
Usher, … common mutation found in the GJB2 gene among the other mutations is the c.−23+1G>A …

… other disorders such as Waardenburg or Pendred syndromes. Affected subjects … mutations
of a single gene might underlie both USH1K and DFNB33. If so, the mutated gene is located …

… anterior chamber inflation is available from a study where a mutation was inserted in the …
Functional characterization of pendrin mutations found in the Israeli and Palestinian populations…

… anterior chamber inflation is available from a study where a mutation was inserted in the …
Functional characterization of pendrin mutations found in the Israeli and Palestinian populations…

… Mutations in genes that encode requisite proteins in the thyroid may also lead to … Functional
characterization of pendrin mutations found in the Israeli and Palestinian populations. Cell …

… Mutations mapping within their genes form the cellular … Here we present a comprehensive
scheme to establish … cells (8) and iodide transport by pendrin in thyroid epithelial cells (9). …

… analysis of mice heterozygous for a C-terminal mutant form … Two years later, myosin VIIA
mutations were found in both … of prevalent syndromes, including Pendred syndrome (with goitre)…

… • Pendred syndrome is characterized by hearing impairment and an organification defect …
mutations and a small deletion have been found. The W276S mutation, which has been found …