Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular dysfunction (USH1D) were previously mapped to overlapping regions of chromosome 10q21-q22. Seven highly consanguineous families segregating nonsyndromic autosomal recessi...

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Hlavní autoři: Bork, Julie M., Peters, Linda M., Riazuddin, Saima, Bernstein, Steve L., Ahmed, Zubair M., Ness, Seth L., Polomeno, Robert, Ramesh, Arabandi, Schloss, Melvin, Srisailpathy, C. R. Srikumari, Wayne, Sigrid, Bellman, Susan, Desmukh, Dilip, Ahmed, Zahoor, Khan, Shaheen N., Kaloustian, Vazken M. Der, Li, X. Cindy, Lalwani, Anil, Riazuddin, Sheikh, Bitner-Glindzicz, Maria, Nance, Walter E., Liu, Xue-Zhong, Wistow, Graeme, Smith, Richard J. H., Griffith, Andrew J., Wilcox, Edward R., Friedman, Thomas B., Morell, Robert J.
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2001
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1234923/
https://ncbi.nlm.nih.gov/pubmed/11090341
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