-
4
-
-
0031001245
-
Location of the first genetic locus, PKDr1, controlling autosomal dominant polycystic kidney disease in Han:SPRD cy/+ rat
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 609-613
-
-
Bihoreau, M.T.1
Ceccherini, I.2
Browne, J.3
Kranzlin, B.4
Romeo, G.5
Lathrop, G.M.6
James, M.R.7
Gretz, N.8
-
7
-
-
0030923557
-
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene
-
(1997)
J. Clin. Invest.
, vol.100
, pp. 1693-1707
-
-
Bruce, L.J.1
Cope, D.L.2
Jones, G.K.3
Schofield, A.E.4
Burley, M.5
Povey, S.6
Unwin, R.J.7
Wrong, O.8
Tanner, M.J.9
-
10
-
-
9044234777
-
The down-regulated in adenoma (DRA) gene encodes an intestine-specific membrane glycoprotein
-
(1996)
Oncogene
, vol.12
, pp. 387-396
-
-
Byeon, M.K.1
Westerman, M.A.2
Maroulakou, I.G.3
Henderson, K.W.4
Suster, S.5
Zhang, X.K.6
Papas, T.S.7
Vesely, J.8
Willingham, M.C.9
Green, J.E.10
Schweinfest, C.W.11
-
12
-
-
16944366606
-
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
-
(1997)
Nat. Genet.
, vol.17
, pp. 411-422
-
-
Everett, L.A.1
Glaser, B.2
Beck, J.C.3
Idol, J.R.4
Buchs, A.5
Heyman, M.6
Adawi, F.7
Hazani, E.8
Nassir, E.9
Baxevanis, A.D.10
Sheffield, V.C.11
Green, E.D.12
-
17
-
-
0027978110
-
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
-
(1994)
Cell
, vol.78
, pp. 1073-1087
-
-
Hastbacka, J.1
De la Chapelle, A.2
Mahtani, M.M.3
Clines, G.4
Reeve-Daly, M.P.5
Daly, M.6
Hamilton, B.A.7
Kusumi, K.8
Trivedi, B.9
Weaver, A.10
-
19
-
-
16144368521
-
Mutations of the down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea
-
(1996)
Nat. Genet.
, vol.14
, pp. 316-319
-
-
Hoglund, P.1
Haila, S.2
Socha, J.3
Tomaszewski, L.4
Saarialho-Kere, U.5
Karjalainen-Lindsberg, M.L.6
Airola, K.7
Holmberg, C.8
De la Chapelle, A.9
Kere, J.10
-
21
-
-
0033358521
-
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1656-1667
-
-
Karet, F.E.1
Finberg, K.E.2
Nayir, A.3
Bakkaloglu, A.4
Ozen, S.5
Hulton, S.A.6
Sanjad, S.A.7
Al-Sabban, E.A.8
Medina, J.F.9
Lifton, R.P.10
-
22
-
-
0032943534
-
+-ATPase cause renal tubular acidosis with sensorineural deafness
-
(1999)
Nat. Genet.
, vol.21
, pp. 84-90
-
-
Karet, F.E.1
Finberg, K.E.2
Nelson, R.D.3
Nayir, A.4
Mocan, H.5
Sanjad, S.A.6
Rodriguez-Soriano, J.7
Santos, F.8
Cremers, C.W.9
Di Pietro, A.10
Hoffbrand, B.I.11
Winiarski, J.12
Bakkaloglu, A.13
Ozen, S.14
Dusunsel, R.15
Goodyer, P.16
Hulton, S.A.17
Wu, D.K.18
Skvorak, A.B.19
Morton, C.C.20
Cunningham, M.J.21
Jha, V.22
Lifton, R.P.23
more..
-
23
-
-
13144262840
-
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 6337-6342
-
-
Karet, F.E.1
Gainza, F.J.2
Gyory, A.Z.3
Unwin, R.J.4
Wrong, O.5
Tanner, M.J.6
Nayir, A.7
Alpay, H.8
Santos, F.9
Hulton, S.A.10
Bakkaloglu, A.11
Ozen, S.12
Cunningham, M.J.13
Di Pietro, A.14
Walker, W.G.15
Lifton, R.P.16
-
27
-
-
0023665902
-
An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs
-
(1987)
Nucleic Acids Res.
, vol.15
, pp. 8125-8148
-
-
Kozak, M.1
-
34
-
-
0344390884
-
A PDZ-interacting domain in CFTR is an apical membrane polarization signal
-
(1999)
J. Clin. Invest.
, vol.104
, pp. 1353-1361
-
-
Moyer, B.D.1
Denton, J.2
Karlson, K.H.3
Reynolds, D.4
Wang, S.5
Mickle, J.E.6
Milewski, M.7
Cutting, G.R.8
Guggino, W.B.9
Li, M.10
Stanton, B.A.11
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