Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F

Human chromosome 10q21-22 harbors USH1F in a region of conserved synteny to mouse chromosome 10. This region of mouse chromosome 10 contains Pcdh15, encoding a protocadherin gene that is mutated in ames waltzer and causes deafness and vestibular dysfunction. Here we report two mutations of protocadh...

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Hauptverfasser: Ahmed, Zubair M., Riazuddin, Saima, Bernstein, Steve L., Ahmed, Zahoor, Khan, Shaheen, Griffith, Andrew J., Morell, Robert J., Friedman, Thomas B., Riazuddin, Sheikh, Wilcox, Edward R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2001
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226045/
https://ncbi.nlm.nih.gov/pubmed/11398101
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