Protocadherins in Neurological Diseases
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Publisher
Springer New York
Link
http://link.springer.com/content/pdf/10.1007/978-1-4614-8090-7_13
Reference116 articles.
1. Ahmed ZM, Riazuddin S, Bernstein SL et al (2001) Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet 69:25–34. doi: 10.1086/321277
2. Ahmed ZM, Riazuddin S, Ahmad J et al (2003) PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet 12:3215–3223. doi: 10.1093/hmg/ddg358
3. Ahmed ZM, Riazuddin S, Aye S et al (2008) Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. Hum Genet 124:215–223. doi: 10.1007/s00439-008-0543-3
4. Alagramam KN, Murcia CL, Kwon HY et al (2001) The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nat Genet 27:99–102. doi: 10.1038/83837
5. Amir RE, Van den Veyver IB, Wan M et al (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23:185–188. doi: 10.1038/13810
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