Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, Smith RJ.
Alagramam KN, et al.
Hum Mol Genet. 2001 Aug 1;10(16):1709-18. doi: 10.1093/hmg/10.16.1709.
Hum Mol Genet. 2001.
PMID: 11487575
We have determined the molecular basis for Usher syndrome type 1F (USH1F) in two families segregating for this type of syndromic deafness. ...We determined the genomic structure of this novel protocadherin, and found a single-base deletion in exon 10 i …
We have determined the molecular basis for Usher syndrome type 1F (USH1F) in two families segregating for this t …