-
1
-
-
0002657045
-
Inherited disorders of the renal tubule
-
The Kidney, 5th edn (Brenner, B. M., ed.). W. B. Saunders, Philadelphia
-
(1996)
, pp. 1764-1827
-
-
Morris, R.C.1
Ives, H.E.2
-
3
-
-
0030923557
-
Familial 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.A.9
-
4
-
-
0032513292
-
- exchanger
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 6380-6388
-
-
Jarolim, P.1
Shayakul, C.2
Prabakaran, D.3
Jiang, L.4
Stuart-Tilley, A.5
Rubin, H.L.6
Simova, S.7
Zavadil, J.8
Herrin, J.T.9
Brouillette, J.10
-
5
-
-
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. U.S.A.
, 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.A.6
Nayir, A.7
Alpay, H.8
Santos, F.9
Hulton, S.A.10
-
9
-
-
0032535372
-
Novel AE1 mutations in recessive distal renal tubular acidosis
-
(1998)
J. Clin. Invest.
, vol.102
, pp. 2173-2179
-
-
Tanphaichitr, V.S.1
Sumboonnanonda, A.2
Ideguchi, H.3
Shayakul, C.4
Brugnara, C.5
Takao, M.6
Veerakul, G.7
Alper, S.L.8
-
10
-
-
0032704679
-
Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis
-
(1999)
Kidney Int.
, vol.56
, pp. 1674-1682
-
-
Vasuvattakul, S.1
Yenchitsomanus, P.-T.2
Vachuanichsanong, P.3
Thuwajit, P.4
Kaitwatcharachai, C.5
Laosombat, V.6
Malasit, P.7
Wilairat, P.8
Nimmannit, S.9
-
11
-
-
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.R.J.9
Di Pietro, A.10
-
13
-
-
0013854293
-
Hereditary ovalocytosis and haemoglobin E-ovalocytosis in Malay Aborigines
-
(1965)
Nature (London)
, vol.208
, pp. 1329-1330
-
-
Lie-Injo, L.E.1
-
15
-
-
0033024133
-
Prevention of cerebral malaria in children in Papua New Guinea by southeast Asian ovalocytosis band 3
-
(1999)
Am. J. Trop. Med. Hyg.
, vol.60
, pp. 1056-1060
-
-
Allen, S.J.1
O'Donnell, A.2
Alexander, N.D.3
Mgone, C.S.4
Peto, T.E.5
Clegg, J.B.6
Alpers, M.P.7
Weatherall, D.J.8
-
18
-
-
0026354679
-
Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis
-
(1991)
Proc. Natl. Acad. Sci. U.S.A.
, vol.88
, pp. 11022-11026
-
-
Jarolim, P.1
Palek, J.2
Amato, D.3
Hassan, K.4
Sapak, P.5
Nurse, G.T.6
Rubin, H.L.7
Zhai, S.8
Sahr, K.E.9
Liu, S.-C.10
-
19
-
-
0026549630
-
Molecular basis of membrane rigidity of hereditary ovalocytosis. A novel mechanism involving the cytoplasmic domain of band 3
-
(1992)
J. Clin. Invest.
, vol.89
, pp. 686-692
-
-
Mohandas, N.1
Winardi, R.2
Knowles, D.3
Leung, A.4
Parra, M.5
George, E.6
Conboy, J.7
Chasis, J.8
-
20
-
-
0026608784
-
Basis of unique red cell membrane properties in hereditary ovalocytosis
-
(1992)
J. Mol. Biol.
, vol.223
, pp. 949-958
-
-
Schofield, A.E.1
Tanner, M.J.A.2
Pinder, J.C.3
Clough, B.C.4
Bayley, P.M.5
Nash, G.B.6
Dluzewski, A.R.7
Reardon, D.M.8
Cox, T.M.9
Wilson, R.J.10
-
27
-
-
0033017395
-
Distal renal tubular acidosis and high urine carbon dioxide tension in a patient with southeast Asian ovalocytosis
-
(1999)
Am. J. Kidney Dis.
, vol.33
, pp. 1147-1152
-
-
Kaitwatcharachai, C.1
Vasuvattakul, S.2
Yenchitsomanus, P.3
Thuwajit, F.4
Malasit, P.5
Chuawatana, D.6
Mingkum, S.7
Halperin, M.L.8
Wilairat, P.9
Nimmannit, S.10
-
30
-
-
0022490838
-
Segmental characterization of defects in collecting tubule acidification
-
(1986)
Kidney Int.
, vol.30
, pp. 546-554
-
-
Battle, D.C.1
-
40
-
-
0031022915
-
Novel band 3 variants (band 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: Status of the D38A polymorphism within the EPB3 locus
-
(1997)
Br. J. Haematol.
, vol.96
, pp. 70-76
-
-
Miraglia del Giudice, E.1
Vallier, A.2
Maillet, P.3
Perrotta, S.4
Cutillo, S.5
Iolascon, A.6
Tanner, M.J.A.7
Delaunay, J.8
Alloisio, N.9
-
43
-
-
0003147477
-
Disorders of the red cell membrane
-
Blood: Principles and practice (Handin, R. I., Lux, S. E. and Stossel, T. P., eds.), J. B. Lippincott, Philadelphia
-
(1995)
, pp. 1701-1808
-
-
Lux, S.E.1
Palek, J.2
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