Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of...
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90
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London: BMJ Publishing Group Ltd
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Language
English
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London: BMJ Publishing Group Ltd
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Background: Usher syndrome, a devastating recessive disorder which combines hearing loss with retinitis pigmentosa, is clinically and genetically heterogeneous. Usher syndrome type 1 (USH1) is the most severe form, characterised by profound congenital hearing loss and vestibular dysfunction. Objective: To describe an efficient protocol which has id...
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Full title
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2564578
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2564578
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ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg.2006.041954
