-
1
-
-
0025174012
-
Identification of a distinct type IV collagen α chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome
-
Hostikka SL, Eddy RL, Byers MG, Hoyhtya M, Shows TB, Tryggvason K (1990) Identification of a distinct type IV collagen α chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome. Proc Natl Acad Sci U S A 87:1606-1610
-
(1990)
Proc Natl Acad Sci U S A
, vol.87
, pp. 1606-1610
-
-
Hostikka, S.L.1
Eddy, R.L.2
Byers, M.G.3
Hoyhtya, M.4
Shows, T.B.5
Tryggvason, K.6
-
2
-
-
0025292712
-
Identification of mutations in the COL4A5 collagen gene in Alport syndrome
-
Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K (1990) Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248:1224-1227
-
(1990)
Science
, vol.248
, pp. 1224-1227
-
-
Barker, D.F.1
Hostikka, S.L.2
Zhou, J.3
Chow, L.T.4
Oliphant, A.R.5
Gerken, S.C.6
Gregory, M.C.7
Skolnick, M.H.8
Atkin, C.L.9
Tryggvason, K.10
-
3
-
-
0026063744
-
Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome
-
Zhou J, Barker DF, Hostikka SL, Gregory MC, Atkin CL, Tryggvason K (1991) Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. Genomics 9:10-18
-
(1991)
Genomics
, vol.9
, pp. 10-18
-
-
Zhou, J.1
Barker, D.F.2
Hostikka, S.L.3
Gregory, M.C.4
Atkin, C.L.5
Tryggvason, K.6
-
4
-
-
0026331422
-
Major rearrangements in the α5(IV) gene in three patients with Alport syndrome
-
Boye E, Vertrie D, Flinter F, Buckle B, Pihlajaniemi T, Hamalainen ER, Myers JC, Bobrow M, Harris A (1991) Major rearrangements in the α5(IV) gene in three patients with Alport syndrome. Genomics 11:1125-1132
-
(1991)
Genomics
, vol.11
, pp. 1125-1132
-
-
Boye, E.1
Vertrie, D.2
Flinter, F.3
Buckle, B.4
Pihlajaniemi, T.5
Hamalainen, E.R.6
Myers, J.C.7
Bobrow, M.8
Harris, A.9
-
5
-
-
0026765405
-
Complete amino acid sequence of the human α5(IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient
-
Zhou J, Hertz JM, Leinonen A, Tyrggvason K (1992) Complete amino acid sequence of the human α5(IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient. J Biol Chem 267:12475-12481
-
(1992)
J Biol Chem
, vol.267
, pp. 12475-12481
-
-
Zhou, J.1
Hertz, J.M.2
Leinonen, A.3
Tyrggvason, K.4
-
6
-
-
0026631416
-
Mutations in the α5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: Detection by denaturing gradient gel electrophoresis of a PCR product
-
Zhou J, Hertz JM, Tryggvason K (1992) Mutations in the α5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product. Am J Hum Genet 50:1291-1300
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1291-1300
-
-
Zhou, J.1
Hertz, J.M.2
Tryggvason, K.3
-
7
-
-
0026792994
-
Alport syndrome and diffuse leiomyomatosis: Deletions in the 5' end of the COL4A5 collagen gene
-
Antignac C, Zhou J, Sanak M, Cochat P, Riussel B, Deschênes G, Gros F, Knebelmann B, Hors-Cayla M-C, Tryggvason K, Gubler M-C (1992) Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen gene. Kidney Int 42:1178-1183
-
(1992)
Kidney Int
, vol.42
, pp. 1178-1183
-
-
Antignac, C.1
Zhou, J.2
Sanak, M.3
Cochat, P.4
Riussel, B.5
Deschênes, G.6
Gros, F.7
Knebelmann, B.8
Hors-Cayla, M.-C.9
Tryggvason, K.10
Gubler, M.-C.11
-
8
-
-
0026494787
-
Deletions of the COL4A5 gene in patients with Alport syndrome
-
Netzer K-O, Renders L, Zhou J, Pullig O, Tryggvason K, Weber M (1992) Deletions of the COL4A5 gene in patients with Alport syndrome. Kidney Int 42:1336-1344
-
(1992)
Kidney Int
, vol.42
, pp. 1336-1344
-
-
Netzer, K.-O.1
Renders, L.2
Zhou, J.3
Pullig, O.4
Tryggvason, K.5
Weber, M.6
-
9
-
-
0026752763
-
Substitution of arginine for glycine 325 in the collagen α5(IV) chain associated with X-linked Alport syndrome: Characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments
-
Knebelmann B, Deschênes G, Gros F, Hors MC, Grünfeld JP, Tryggvason K, Gubler MC, Antignac C (1992) Substitution of arginine for glycine 325 in the collagen α5(IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. Am J Hum Genet 51:135-142
-
(1992)
Am J Hum Genet
, vol.51
, pp. 135-142
-
-
Knebelmann, B.1
Deschênes, G.2
Gros, F.3
Hors, M.C.4
Grünfeld, J.P.5
Tryggvason, K.6
Gubler, M.C.7
Antignac, C.8
-
10
-
-
0026663364
-
Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome
-
Smeets HJM, Melenhorst JJ, Lemmink HH, Schröder CH, Nelen MR, Zhou J, Hostikka SL, Tryggvason K, Ropers H-H, Jansweijer MCE, Monnens LAH, Brunner HG, Oost BA van (1992) Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome. Kidney Int 42:83-88
-
(1992)
Kidney Int
, vol.42
, pp. 83-88
-
-
Smeets, H.J.M.1
Melenhorst, J.J.2
Lemmink, H.H.3
Schröder, C.H.4
Nelen, M.R.5
Zhou, J.6
Hostikka, S.L.7
Tryggvason, K.8
Ropers, H.-H.9
Jansweijer, M.C.E.10
Monnens, L.A.H.11
Brunner, H.G.12
Van Oost, B.A.13
-
11
-
-
0026521478
-
Alport syndrome caused by a 5' deletion within the COL4A5 gene
-
Renieri A, Seri M, Myers JC, Pihlajaniemi T, Sessa A, Rizzoni G, De Marchi M (1992) Alport syndrome caused by a 5' deletion within the COL4A5 gene. Hum Genet 89:120-121
-
(1992)
Hum Genet
, vol.89
, pp. 120-121
-
-
Renieri, A.1
Seri, M.2
Myers, J.C.3
Pihlajaniemi, T.4
Sessa, A.5
Rizzoni, G.6
De Marchi, M.7
-
12
-
-
0027172529
-
Identification of four novel mutations in the COL4A5 gene in patients with Alport syndrome
-
Lemmink HH, Schröder CH, Brunner HG, Nelen MR, Zhou J, Tryggvason K, Haagsma-Schouten WAG, Roodvoets AP, Rascher W, Oost BA van, Smeets HJM (1993) Identification of four novel mutations in the COL4A5 gene in patients with Alport syndrome. Genomics 17:485-489
-
(1993)
Genomics
, vol.17
, pp. 485-489
-
-
Lemmink, H.H.1
Schröder, C.H.2
Brunner, H.G.3
Nelen, M.R.4
Zhou, J.5
Tryggvason, K.6
Haagsma-Schouten, W.A.G.7
Roodvoets, A.P.8
Rascher, W.9
Van Oost, B.A.10
Smeets, H.J.M.11
-
13
-
-
0027435489
-
Identification of a single base insertion in the COL4A5 gene in Alport syndrome
-
Nakazato H, Hattori S, Matsuura T, Koitabashi Y, Endo F, Matsuda I (1993) Identification of a single base insertion in the COL4A5 gene in Alport syndrome. Kidney Int 44: 1091-1096
-
(1993)
Kidney Int
, vol.44
, pp. 1091-1096
-
-
Nakazato, H.1
Hattori, S.2
Matsuura, T.3
Koitabashi, Y.4
Endo, F.5
Matsuda, I.6
-
14
-
-
0027232076
-
A splicing mutation in the α5(IV) collagen gene of a family with Alport syndrome
-
Nomura S, Osawa G, Sai T, Harano T, Harano K (1993) A splicing mutation in the α5(IV) collagen gene of a family with Alport syndrome. Kidney Int 43:1116-1124
-
(1993)
Kidney Int
, vol.43
, pp. 1116-1124
-
-
Nomura, S.1
Osawa, G.2
Sai, T.3
Harano, T.4
Harano, K.5
-
15
-
-
0027247587
-
COL4A5 splice site mutation and α5(IV) collagen mRNA in Alport syndrome
-
Netzer K-O, Pullig O, Frei U, Zhou J, Tryggvason K, Weber M (1993) COL4A5 splice site mutation and α5(IV) collagen mRNA in Alport syndrome. Kidney Int 43:486-492
-
(1993)
Kidney Int
, vol.43
, pp. 486-492
-
-
Netzer, K.-O.1
Pullig, O.2
Frei, U.3
Zhou, J.4
Tryggvason, K.5
Weber, M.6
-
16
-
-
0027523437
-
Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome
-
Zhou J, Gregory MC, Hertz JM, Barker DF, Atkins C, Spencer ES, Tryggvason K (1993) Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome. Kidney Int 43:722-729
-
(1993)
Kidney Int
, vol.43
, pp. 722-729
-
-
Zhou, J.1
Gregory, M.C.2
Hertz, J.M.3
Barker, D.F.4
Atkins, C.5
Spencer, E.S.6
Tryggvason, K.7
-
17
-
-
0028492795
-
COL4A5 deletion in three patients with Alport syndrome and posttransplant antiglomerular basement membrane nephritis
-
Ding J, Zhou J, Tryggvason K, Kashtan CE (1994) COL4A5 deletion in three patients with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. J Am Soc Nephrol 5:161-168
-
(1994)
J Am Soc Nephrol
, vol.5
, pp. 161-168
-
-
Ding, J.1
Zhou, J.2
Tryggvason, K.3
Kashtan, C.E.4
-
18
-
-
0027995442
-
Mutations in the COL4A5 gene in Alport syndrome: A possible mutation in primordial germ cells
-
Nakazato H, Hattori S, Ushijima T, Matsuura T, Koitabashi Y, Takada T, Yoshioka K, Endo F, Matsuda I (1994) Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells. Kidney Int 46:1307-1314
-
(1994)
Kidney Int
, vol.46
, pp. 1307-1314
-
-
Nakazato, H.1
Hattori, S.2
Ushijima, T.3
Matsuura, T.4
Koitabashi, Y.5
Takada, T.6
Yoshioka, K.7
Endo, F.8
Matsuda, I.9
-
19
-
-
0028394798
-
A deletion mutation in the 3' end of the α5(IV) collagen gene in juvenile-onset Alport syndrome
-
Saito A, Sakatsume M, Yamazaki H, Ogata F, Hirasawa Y, Arakawa M (1994) A deletion mutation in the 3' end of the α5(IV) collagen gene in juvenile-onset Alport syndrome. J Am Soc Nephrol 4:1649-1653
-
(1994)
J Am Soc Nephrol
, vol.4
, pp. 1649-1653
-
-
Saito, A.1
Sakatsume, M.2
Yamazaki, H.3
Ogata, F.4
Hirasawa, Y.5
Arakawa, M.6
-
20
-
-
0028057247
-
Aberrant splicing of the COL4A5 gene in patients with Alport syndrome
-
Lemmink HH, Kluijtmans LAJ, Brunner HG, Schröder CH, Knebelmann B, Jelinkova E, Oost BA van, Monnens LAH, Smeets HJM (1994) Aberrant splicing of the COL4A5 gene in patients with Alport syndrome. Hum Mol Genet 3:317-322
-
(1994)
Hum Mol Genet
, vol.3
, pp. 317-322
-
-
Lemmink, H.H.1
Kluijtmans, L.A.J.2
Brunner, H.G.3
Schröder, C.H.4
Knebelmann, B.5
Jelinkova, E.6
Van Oost, B.A.7
Monnens, L.A.H.8
Smeets, H.J.M.9
-
21
-
-
0028069132
-
Mutations in the type IV α3(COL4A3) gene in autosomal recessive Alport syndrome
-
Lemmink HH, Mochizuki T, Heuvel LPWJ van den, Schröder CH, Barrientos A, Monnens LAH, Oost BA van, Brunner HG, Reeders S, Smeets HJM (1994) Mutations in the type IV α3(COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet 3:1269-1273
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1269-1273
-
-
Lemmink, H.H.1
Mochizuki, T.2
Van Den Heuvel, L.P.W.J.3
Schröder, C.H.4
Barrientos, A.5
Monnens, L.A.H.6
Van Oost, B.A.7
Brunner, H.G.8
Reeders, S.9
Smeets, H.J.M.10
-
22
-
-
0028291121
-
Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen α5(IV)-chain
-
Renieri A, Meroni M, Sessa A, Battini G, Serbelloni P, Tarelli LT, Seri M, Galli L, De Marchi M (1994) Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen α5(IV)-chain. Nephron 67:444-449
-
(1994)
Nephron
, vol.67
, pp. 444-449
-
-
Renieri, A.1
Meroni, M.2
Sessa, A.3
Battini, G.4
Serbelloni, P.5
Tarelli, L.T.6
Seri, M.7
Galli, L.8
De Marchi, M.9
-
23
-
-
0028127985
-
Single base pair deletions in exon 39 and 42 of the COL4A5 gene in Alport syndrome
-
Renieri A, Galli L, De Marchi M, Volti SL, Mollica F, Lupo A, Maschio G, Peissel B, Rossetti S, Pignatti P, Turco AE (1994) Single base pair deletions in exon 39 and 42 of the COL4A5 gene in Alport syndrome. Hum Mol Genet 3: 201-202
-
(1994)
Hum Mol Genet
, vol.3
, pp. 201-202
-
-
Renieri, A.1
Galli, L.2
De Marchi, M.3
Volti, S.L.4
Mollica, F.5
Lupo, A.6
Maschio, G.7
Peissel, B.8
Rossetti, S.9
Pignatti, P.10
Turco, A.E.11
-
24
-
-
0028353676
-
Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression
-
Antignac C, Knebelmann B, Drouot L, Gros F, Deschênes G, Hors-Cayla M-C, Zhou J, Tryggvason K, Grünfeld J-P, Broyer M, Gubler M-C (1994) Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression. J Clin Invest 93:1195-1207
-
(1994)
J Clin Invest
, vol.93
, pp. 1195-1207
-
-
Antignac, C.1
Knebelmann, B.2
Drouot, L.3
Gros, F.4
Deschênes, G.5
Hors-Cayla, M.-C.6
Zhou, J.7
Tryggvason, K.8
Grünfeld, J.-P.9
Broyer, M.10
Gubler, M.-C.11
-
25
-
-
0028940666
-
Severe Alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele
-
Guo C, Van Damme B, Vanrenterghem Y, Devriendt K, Cassiman J-J, Marynen P (1995) Severe Alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele. J Clin Invest 95:1832-1837
-
(1995)
J Clin Invest
, vol.95
, pp. 1832-1837
-
-
Guo, C.1
Van Damme, B.2
Vanrenterghem, Y.3
Devriendt, K.4
Cassiman, J.-J.5
Marynen, P.6
-
26
-
-
0028940798
-
Detection of 12 novel mutations in the collagenous domain of the COL4A5 eene in Alport patients
-
Boye E, Flinter F, Zhou J, Tryggvason K, Bobrow M, Harris A (1995) Detection of 12 novel mutations in the collagenous domain of the COL4A5 eene in Alport patients. Hum Mutat 5: 197-204
-
(1995)
Hum Mutat
, vol.5
, pp. 197-204
-
-
Boye, E.1
Flinter, F.2
Zhou, J.3
Tryggvason, K.4
Bobrow, M.5
Harris, A.6
-
27
-
-
9844240498
-
Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: A study of 250 patients with hematuria and suspected of having Alport syndrome
-
Heiskari N, Zhang X, Zhou J, Leinonen A, Barker D, Gregory M, Atkin CL, Netzer K-O, Webers M, Reeders S, Grönhagen-Riska C, Neumann HPH, Trembath R, Tryggvason K (1996) Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome. J Am Soc Nephrol. 7:702-709
-
(1996)
J Am Soc Nephrol.
, vol.7
, pp. 702-709
-
-
Heiskari, N.1
Zhang, X.2
Zhou, J.3
Leinonen, A.4
Barker, D.5
Gregory, M.6
Atkin, C.L.7
Netzer, K.-O.8
Webers, M.9
Reeders, S.10
Grönhagen-Riska, C.11
Neumann, H.P.H.12
Trembath, R.13
Tryggvason, K.14
-
28
-
-
19244363372
-
Spectrum of mutations in the COL4A5 gene in X-linked Alport syndrome
-
Knebelmann B, Breillat C, Forestier L, Arrondel C, Jacassier D, Giatra I, Douot L, Deschênes G, Grünfeld JP, Broyer M, Gubler MC, Antignac C (1996) Spectrum of mutations in the COL4A5 gene in X-linked Alport syndrome. Am J Hum Genet 59:1221-1232
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1221-1232
-
-
Knebelmann, B.1
Breillat, C.2
Forestier, L.3
Arrondel, C.4
Jacassier, D.5
Giatra, I.6
Douot, L.7
Deschênes, G.8
Grünfeld, J.P.9
Broyer, M.10
Gubler, M.C.11
Antignac, C.12
-
29
-
-
0029931071
-
X-linked Alport syndrome: An SSCP-based mutation survey over all 51 exons of the COL4A5 gene
-
Renieri A, Bruttini M, Galli L, Zanelli P, Neri T, Rossetti S, Turco A, Heiskari N, Zhou J, Gusmano R, Massella L, Banfi G, Scolari F, Sessa A, Rizzoni G, Tryggvason K, Pignatti PF, Savi M, Ballabio A, De Marchi M (1996) X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. Am J Hum Genet 58:1192-1204
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1192-1204
-
-
Renieri, A.1
Bruttini, M.2
Galli, L.3
Zanelli, P.4
Neri, T.5
Rossetti, S.6
Turco, A.7
Heiskari, N.8
Zhou, J.9
Gusmano, R.10
Massella, L.11
Banfi, G.12
Scolari, F.13
Sessa, A.14
Rizzoni, G.15
Tryggvason, K.16
Pignatti, P.F.17
Savi, M.18
Ballabio, A.19
De Marchi, M.20
more..
-
30
-
-
0029930996
-
The COL4A5 gene in Japanese Alport syndrome patients: Spectrum of mutations of all exons
-
Kawai S, Nomura S, Harano T, Harano K, Fukushima T, Osawa G, the Japanese Alport Network (1996) The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. Kidney Int 49:814-822
-
(1996)
Kidney Int
, vol.49
, pp. 814-822
-
-
Kawai, S.1
Nomura, S.2
Harano, T.3
Harano, K.4
Fukushima, T.5
Osawa, G.6
-
31
-
-
0032965096
-
Detection of mutations in COL4A5 in patients with Alport syndrome
-
Plant KE, Green PM, Vetrie D, Flinter FA (1999) Detection of mutations in COL4A5 in patients with Alport syndrome. Hum Mutat 13:124-132
-
(1999)
Hum Mutat
, vol.13
, pp. 124-132
-
-
Plant, K.E.1
Green, P.M.2
Vetrie, D.3
Flinter, F.A.4
-
32
-
-
4243989399
-
X-linked Alport syndrome (AS). A multicenter European collaborative study
-
Gubler MC, the European Communities Alport Syndrome Concerted Action (ECASCA) (1998) X-linked Alport syndrome (AS). A multicenter European collaborative study (abstract). J Am Soc Nephrol 9:388A
-
(1998)
J Am Soc Nephrol
, vol.9
-
-
Gubler, M.C.1
-
33
-
-
0004136246
-
-
Cold Spring Harbor Press, New York
-
Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual, 2nd edn. Cold Spring Harbor Press, New York, pp 9.17-9.19
-
(1989)
Molecular Cloning: a Laboratory Manual, 2nd Edn.
, pp. 917-919
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
34
-
-
0024595101
-
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
-
Orita M, Iwahana H, Kanazawa H, Hayashi K. Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci U S A 86:2766-2770
-
(1989)
Proc Natl Acad Sci U S A
, vol.86
, pp. 2766-2770
-
-
Orita, M.1
Iwahana, H.2
Kanazawa, H.3
Hayashi, K.4
Sekiya, T.5
-
35
-
-
0031612929
-
Recommendations for a nomenclature system for human gene mutations
-
Antonarakis SE, the Nomenclature Working Group (1998) Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1-3
-
(1998)
Hum Mutat
, vol.11
, pp. 1-3
-
-
Antonarakis, S.E.1
-
36
-
-
0028285270
-
Structure of the human type IV collagen COL4A5 gene
-
Zhou J, Leinonen A, Tryggvason K (1994) Structure of the human type IV collagen COL4A5 gene. J Biol Chem 269:6608-6614
-
(1994)
J Biol Chem
, vol.269
, pp. 6608-6614
-
-
Zhou, J.1
Leinonen, A.2
Tryggvason, K.3
-
38
-
-
0342856020
-
-
The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff.
-
The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff. HYPERLINK http://www.uwcm.ac. uk/uwsm/mg/hgmd0.html
-
-
-
-
39
-
-
0030737631
-
Alport syndrome -is there a genotype-phenotype relationship?
-
Turco AE, Renieri A, De Marchi M (1997) Alport syndrome -is there a genotype-phenotype relationship? Nephrol Dial Transplant 12:1551-1553
-
(1997)
Nephrol Dial Transplant
, vol.12
, pp. 1551-1553
-
-
Turco, A.E.1
Renieri, A.2
De Marchi, M.3
-
41
-
-
0031747294
-
Ultrastructural and immunohistochemical findings in Alport's syndrome: A study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations
-
Mazzucco G, Barsotti P, Muda AO. Fortunato M, Mihatsch M, Torri-Tarelli L, Renieri A, Faraggiana T, De Marchi M, Monga G (1998) Ultrastructural and immunohistochemical findings in Alport's syndrome: a study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations. J Am Soc Nephrol 9:1023-1031
-
(1998)
J Am Soc Nephrol
, vol.9
, pp. 1023-1031
-
-
Mazzucco, G.1
Barsotti, P.2
Muda, A.O.3
Fortunato, M.4
Mihatsch, M.5
Torri-Tarelli, L.6
Renieri, A.7
Faraggiana, T.8
De Marchi, M.9
Monga, G.10
-
42
-
-
0031725136
-
High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing
-
Martin P, Heiskari N, Zhou Z, Leinonen A, Tumelius T, Hertz JM, Barker D, Gregory M, Atkin C, Styrkarsdottir U, Neumann H, Springate J, Shows T, Pettersson E, Tryggvason K (1998) High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing. J Am Soc Nephrol 9:2291-2301
-
(1998)
J Am Soc Nephrol
, vol.9
, pp. 2291-2301
-
-
Martin, P.1
Heiskari, N.2
Zhou, Z.3
Leinonen, A.4
Tumelius, T.5
Hertz, J.M.6
Barker, D.7
Gregory, M.8
Atkin, C.9
Styrkarsdottir, U.10
Neumann, H.11
Springate, J.12
Shows, T.13
Pettersson, E.14
Tryggvason, K.15
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