Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15
- 24 December 2008
- journal article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 17 (5), 554-564
- https://doi.org/10.1038/ejhg.2008.231
Abstract
No abstract availableKeywords
This publication has 48 references indexed in Scilit:
- Promoter, alternative splice forms, and genomic structure of protocadherin 15Genomics, 2007
- Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cellsNature, 2007
- Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutionsClinical & Experimental Ophthalmology, 2007
- A stop codon mutation in SCN9A causes lack of pain sensationHuman Molecular Genetics, 2007
- Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric CancerJAMA, 2007
- Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome2007
- Ames Waltzer Deaf Mice Have Reduced Electroretinogram Amplitudes and Complex Alternative Splicing ofPcdh15TranscriptsPublished by Association for Research in Vision and Ophthalmology (ARVO) ,2006
- The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15Journal of Neuroscience, 2006
- Assessment of the genetic causes of recessive childhood non‐syndromic deafness in the UK – implications for genetic testingClinical Genetics, 2005
- High Frequency of Hereditary Colorectal Cancer in Newfoundland Likely Involves Novel Susceptibility GenesClinical Cancer Research, 2005