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Results: 1-6 |
Results: 6

Authors: Campbell, C Cucci, RA Prasad, S Green, GE Edeal, JB Galer, CE Karniski, LP Sheffield, VC Smith, RJH
Citation: C. Campbell et al., Pendred syndrome, DFNB4, and PDS/SCL26A4 identification of eight novel mutations and possible genotype-phenotype correlations, HUM MUTAT, 17(5), 2001, pp. 403-411

Authors: Karniski, LP
Citation: Lp. Karniski, Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype, HUM MOL GEN, 10(14), 2001, pp. 1485-1490

Authors: Royaux, IE Wall, SM Karniski, LP Everett, LA Suzuki, K Knepper, MA Green, ED
Citation: Ie. Royaux et al., Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion, P NAS US, 98(7), 2001, pp. 4221-4226

Authors: Scott, DA Wang, R Kreman, TM Andrews, M McDonald, JM Bishop, JR Smith, RJH Karniski, LP Sheffield, VC
Citation: Da. Scott et al., Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4), HUM MOL GEN, 9(11), 2000, pp. 1709-1715

Authors: Scott, DA Karniski, LP
Citation: Da. Scott et Lp. Karniski, Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange, AM J P-CELL, 278(1), 2000, pp. C207-C211

Authors: Scott, DA Wang, R Kreman, TM Sheffield, VC Karniski, LP
Citation: Da. Scott et al., The Pendred syndrome gene encodes a chloride-iodide transport protein, NAT GENET, 21(4), 1999, pp. 440-443
Risultati: 1-6 |