-
1
-
-
0015020575
-
Sex-linked chorioretinal heredodegenerations
-
Francois J. Sex-linked chorioretinal heredodegenerations. Birth Defects Orig Artic Ser 1971; VII(3): 100-116.
-
(1971)
Birth Defects Orig Artic Ser
, vol.7
, Issue.3
, pp. 100-116
-
-
Francois, J.1
-
2
-
-
0021212980
-
Choroideremia: A clinical, electron microscopic, and biochemical report
-
Rodrigues MM, Ballintine EJ, Wiggert BN, et al. Choroideremia: a clinical, electron microscopic, and biochemical report. Ophthalmology 1984; 91: 873-883.
-
(1984)
Ophthalmology
, vol.91
, pp. 873-883
-
-
Rodrigues, M.M.1
Ballintine, E.J.2
Wiggert, B.N.3
-
5
-
-
0028285493
-
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients
-
Van Bokhoven H, Schwartz M, Andréasson S, et al. Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients. Hum Mol Genet 1994; 3: 1047-1051.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1047-1051
-
-
Van Bokhoven, H.1
Schwartz, M.2
Andréasson, S.3
-
6
-
-
0026800719
-
Purification of component A of rab geranylgeranyl transferase: Possible identity with the choroideremia gene product
-
Seabra MC, Brown MS, Slaughter CA, et al. Purification of component A of rab geranylgeranyl transferase: possible identity with the choroideremia gene product. Cell 1992; 70: 1049-1057.
-
(1992)
Cell
, vol.70
, pp. 1049-1057
-
-
Seabra, M.C.1
Brown, M.S.2
Slaughter, C.A.3
-
7
-
-
0027436941
-
Rab proteins and the road maps for intracellular transport
-
Simons K, Zerial M. Rab proteins and the road maps for intracellular transport. Neuron 1993; 11: 789-799.
-
(1993)
Neuron
, vol.11
, pp. 789-799
-
-
Simons, K.1
Zerial, M.2
-
8
-
-
0028107932
-
Rab GTPases: Master regulators of membrane trafficking
-
Pfeffer SR. Rab GTPases: master regulators of membrane trafficking. Curr Opin Cell Biol 1994; 6: 522-526.
-
(1994)
Curr Opin Cell Biol
, vol.6
, pp. 522-526
-
-
Pfeffer, S.R.1
-
9
-
-
0026749895
-
Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing
-
Van den Hurk JAJM, Van de Pol TJR, Molloy CM, et al. Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. Am J Hum Genet 1992; 50: 1195-1202.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1195-1202
-
-
Van Den Hurk, J.A.J.M.1
Van De Pol, T.J.R.2
Molloy, C.M.3
-
10
-
-
0027468090
-
Identification of mutations in Danish choroideremia families
-
Schwartz M, Rosenberg T, Van den Hurk JAJM, et al. Identification of mutations in Danish choroideremia families. Hum Mutat 1993; 2: 43-47.
-
(1993)
Hum Mutat
, vol.2
, pp. 43-47
-
-
Schwartz, M.1
Rosenberg, T.2
Van Den Hurk, J.A.J.M.3
-
11
-
-
0027324131
-
A new (old) deletion in the choroideremia gene
-
Pascal O, Donnelly P, Fouanon C, et al. A new (old) deletion in the choroideremia gene. Hum Mol Genet 1993; 2: 1489.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1489
-
-
Pascal, O.1
Donnelly, P.2
Fouanon, C.3
-
12
-
-
0026864788
-
Aberrant splicing of the CHM gene is a significant cause of choroideremia
-
Sankila EM, Tolvanen R, Van den Hurk JAJM, et al. Aberrant splicing of the CHM gene is a significant cause of choroideremia. Nat Genet 1992; 1: 109-113.
-
(1992)
Nat Genet
, vol.1
, pp. 109-113
-
-
Sankila, E.M.1
Tolvanen, R.2
Van Den Hurk, J.A.J.M.3
-
13
-
-
0028264436
-
Missense mutation in the choroideremia gene
-
Donnelly P, Menet H, Fouanon C, et al. 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
-
14
-
-
0025966595
-
Allele-specific polymerase chain reaction: A method for amplification and sequence determination of a single component among a mixture of sequence variants
-
Suzuki Y, Sekiya T, Hayashi K. Allele-specific polymerase chain reaction: a method for amplification and sequence determination of a single component among a mixture of sequence variants. Anal Biochem 1991; 192: 82-84.
-
(1991)
Anal Biochem
, vol.192
, pp. 82-84
-
-
Suzuki, Y.1
Sekiya, T.2
Hayashi, K.3
-
15
-
-
0023485731
-
Linkage relationships of X-linked choroideremia to DXYS1 and DXS3
-
MacDonald IM, Sandre RM, Wong P, et al. Linkage relationships of X-linked choroideremia to DXYS1 and DXS3. Hum Genet 1987; 77: 233-235.
-
(1987)
Hum Genet
, vol.77
, pp. 233-235
-
-
MacDonald, I.M.1
Sandre, R.M.2
Wong, P.3
-
16
-
-
0023638694
-
Gene mapping of X-linked choroideremia with restriction fragment-length polymorphisms
-
MacDonald IM, Sandre RM, Hunter AGW, et al. Gene mapping of X-linked choroideremia with restriction fragment-length polymorphisms. Can J Ophthalmol 1987; 22: 310-315.
-
(1987)
Can J Ophthalmol
, vol.22
, pp. 310-315
-
-
MacDonald, I.M.1
Sandre, R.M.2
Hunter, A.G.W.3
-
17
-
-
0031985856
-
Three basepair insertional mutation in the choroideremia gene
-
in press
-
Nesslinger N, Horrocks S, Ray P, et al. Three basepair insertional mutation in the choroideremia gene. Hum Mutat, in press.
-
Hum Mutat
-
-
Nesslinger, N.1
Horrocks, S.2
Ray, P.3
-
19
-
-
0001784666
-
Choroideremia
-
Heckenlively JR, editor. Philadelphia: Lippincott
-
Heckenlively JT, Bird AC. Choroideremia. In: Heckenlively JR, editor. Retinitis Pigmentosa. Philadelphia: Lippincott, 1988; 176-187.
-
(1988)
Retinitis Pigmentosa
, pp. 176-187
-
-
Heckenlively, J.T.1
Bird, A.C.2
|