Publication:

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database (2012)

Author(s): Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Moriniere V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GCP, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang XJ, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L

      • Date: 31-01-2012
      • Journal: Human Mutation
      • Volume: 33
      • Issue: 3
      • Pages: 457-466
      • Publisher: John Wiley & Sons, Inc.
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: PAX2 renal coloboma syndrome papillorenal syndrome URETERAL BUD APOPTOSIS MORNING GLORY SYNDROME MISSENSE MUTATION VARIABLE PHENOTYPE GENE MUTATION MUTANT MICE FAMILY DISEASE KIDNEY HYPOPLASIA

      Staff

      Dr John Sayer
      Academic Clinical Senior Lecturer