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
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
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