-
1
-
-
0028237921
-
Cloning and characterization of the human choroideremia gene
-
Van Bokhoven H, Van den Hurk JAJM, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FPM. Cloning and characterization of the human choroideremia gene. Hum Mol Genet 1994;3:1041-1046.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1041-1046
-
-
Van Bokhoven, H.1
Van Den Hurk, J.A.J.M.2
Bogerd, L.3
Philippe, C.4
Gilgenkrantz, S.5
De Jong, P.6
Ropers, H.H.7
Cremers, F.P.M.8
-
2
-
-
0027300621
-
cDNA cloning of component a of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein
-
Andres DA, Seabra MC, Brown MS, Armstrong SA, Smeland TE, Cremers FPM, Goldstein JL. cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein. Cell 1993;73:1091-1099.
-
(1993)
Cell
, vol.73
, pp. 1091-1099
-
-
Andres, D.A.1
Seabra, M.C.2
Brown, M.S.3
Armstrong, S.A.4
Smeland, T.E.5
Cremers, F.P.M.6
Goldstein, J.L.7
-
3
-
-
0026629308
-
Rab geranylgeranyl transferase: A multisubunit enzyme that prenylates GTP-binding proteins terminating in Cys-X-Cys or Cys-Cys
-
Seabra MC, Goldstein JL, Südhof TC, Brown MS. Rab geranylgeranyl transferase: a multisubunit enzyme that prenylates GTP-binding proteins terminating in Cys-X-Cys or Cys-Cys. J Biol Chem 1992;267:14497-14503.
-
(1992)
J Biol Chem
, vol.267
, pp. 14497-14503
-
-
Seabra, M.C.1
Goldstein, J.L.2
Südhof, T.C.3
Brown, M.S.4
-
4
-
-
16944364182
-
Molecular basis of choroideremia (CHM): Mutations involving the Rab escort protein-1 (REP-1) gene
-
Van den Hurk JAJM, Schwartz M, Van Bokhoven H, Van de Pol TJR, Bogerd L, Pinckers AJLG, Bleeker-Wagemakers EM, Pawlowitzki IH, Rüther K, Ropers HH, Cremers FPM. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. Hum Mutat 1997;9:110-117.
-
(1997)
Hum Mutat
, vol.9
, pp. 110-117
-
-
Van Den Hurk, J.A.J.M.1
Schwartz, M.2
Van Bokhoven, H.3
Van De Pol, T.J.R.4
Bogerd, L.5
Pinckers, A.J.L.G.6
Bleeker-Wagemakers, E.M.7
Pawlowitzki, I.H.8
Rüther, K.9
Ropers, H.H.10
Cremers, F.P.M.11
-
5
-
-
0029797882
-
A novel mutation (S558X) causing choroideremia
-
Beaufrère L, Tuffery S, Hamel C, Arnaud B, Demaille J, Claustres M. A novel mutation (S558X) causing choroideremia. Hum Mutat 1996; 8:395.
-
(1996)
Hum Mutat
, vol.8
, pp. 395
-
-
Beaufrère, L.1
Tuffery, S.2
Hamel, C.3
Arnaud, B.4
Demaille, J.5
Claustres, M.6
-
7
-
-
0031090099
-
A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555→stop) in the CHM gene leads to choroideremia
-
Forsythe P, Maguire A, Fujita R, Moen C, Swaroop A, Bennett J. A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555→stop) in the CHM gene leads to choroideremia. Exp Eye Res 1997;64:487-490.
-
(1997)
Exp Eye Res
, vol.64
, pp. 487-490
-
-
Forsythe, P.1
Maguire, A.2
Fujita, R.3
Moen, C.4
Swaroop, A.5
Bennett, J.6
-
8
-
-
0345698820
-
The protein truncation test (PTT) as a method of detection for choroideremia mutations
-
Beaufrère L, Tuffery S, Hamel C, Bareil C, Arnaud B, Demaille J, Claustres M. The protein truncation test (PTT) as a method of detection for choroideremia mutations. Exp Eye Res 1997;65:849-854.
-
(1997)
Exp Eye Res
, vol.65
, pp. 849-854
-
-
Beaufrère, L.1
Tuffery, S.2
Hamel, C.3
Bareil, C.4
Arnaud, B.5
Demaille, J.6
Claustres, M.7
-
9
-
-
0028264436
-
Missense mutation in the choroideremia gene
-
Donnelly P, Menet H, Fouanon C, Herbert O, Moisan JP, le Roux MG, Pascal O. Missense mutation in the choroideremia gene. Hum Mol Genet 1994;3:1017.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1017
-
-
Donnelly, P.1
Menet, H.2
Fouanon, C.3
Herbert, O.4
Moisan, J.P.5
Le Roux, M.G.6
Pascal, O.7
-
10
-
-
0024284028
-
A simple salting out procedure for extracting DNA from nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from nucleated cells. Nucl Acids Res 1988;16:1215.
-
(1988)
Nucl Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
11
-
-
0023277545
-
Single step method of RNA isolation by acid guanidium thiocyanate-phenolchloroform extraction
-
Chomczynski P, Sacchi N. Single step method of RNA isolation by acid guanidium thiocyanate-phenolchloroform extraction. Anal Biochem 1987;162:156-159.
-
(1987)
Anal Biochem
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
12
-
-
0007478851
-
Molecular pathology
-
Strachan T, Read AP, editors. Oxford: ßios Scientific Publishers
-
Strachan T, Read AP. Molecular pathology. In: Strachan T, Read AP, editors. Human Molecular Genetics. Oxford: ßios Scientific Publishers 1996; 401-426.
-
(1996)
Human Molecular Genetics
, pp. 401-426
-
-
Strachan, T.1
Read, A.P.2
-
14
-
-
0029842023
-
Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration
-
Keen TJ, Inglehearn CF. Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration. Hum Mutat 1996;8:297-303.
-
(1996)
Hum Mutat
, vol.8
, pp. 297-303
-
-
Keen, T.J.1
Inglehearn, C.F.2
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