Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa -: art. no. e89

被引:80
作者
Bernal, S
Calaf, M
Garcia-Hoyos, M
Garcia-Sandoval, B
Rosell, J
Adan, A
Ayuso, C
Baiget, M
机构
[1] Hosp Santa Creu & Sant Pau, Serv Genet, Barcelona 08025, Spain
[2] Fdn Jimenez Diaz, Serv Genet, E-28040 Madrid, Spain
[3] Fdn Jimenez Diaz, Serv Oftalmol, E-28040 Madrid, Spain
[4] Hosp San Dureta, Serv Genet, Palma de Mallorca, Spain
[5] Hosp Santa Creu & Sant Pau, Serv Oftalmol, Barcelona, Spain
关键词
D O I
10.1136/jmg.40.7.e89
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页数:7
相关论文
共 26 条
[1]  
AYUSO C, 1995, CLIN GENET, V48, P120
[2]  
Baiget M, 1998, MED CLIN-BARCELONA, V111, P420
[3]   HOMOZYGOUS TANDEM DUPLICATION WITHIN THE GENE ENCODING THE BETA-SUBUNIT OF ROD PHOSPHODIESTERASE AS A CAUSE FOR AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA [J].
BAYES, M ;
GIORDANO, M ;
BALCELLS, S ;
GRINBERG, D ;
VILAGELIU, L ;
MARTINEZ, I ;
AYUSO, C ;
BENITEZ, J ;
RAMOSARROYO, MA ;
CHIVELET, P ;
SOLANS, T ;
VALVERDE, D ;
AMSELEM, S ;
GOOSSENS, M ;
BAIGET, M ;
GONZALEZDUARTE, R ;
BESMOND, C .
HUMAN MUTATION, 1995, 5 (03) :228-234
[4]  
Bayes M, 1996, CLIN GENET, V50, P380
[5]   EVIDENCE AGAINST INVOLVEMENT OF RECOVERIN IN AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA IN 42 SPANISH FAMILIES [J].
BAYES, M ;
VALVERDE, D ;
BALCELLS, S ;
GRINBERG, D ;
VILAGELIU, L ;
BENITEZ, J ;
AYUSO, C ;
BENEYTO, M ;
BAIGET, M ;
GONZALEZDUARTE, R .
HUMAN GENETICS, 1995, 96 (01) :89-94
[6]  
BAYES M, 1996, THESIS U BARCELONA
[7]  
Bernal S, 2001, Ophthalmic Genet, V22, P19, DOI 10.1076/opge.22.1.19.2237
[8]   Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa -: art. no. e89 [J].
Bernal, S ;
Calaf, M ;
Garcia-Hoyos, M ;
Garcia-Sandoval, B ;
Rosell, J ;
Adan, A ;
Ayuso, C ;
Baiget, M .
JOURNAL OF MEDICAL GENETICS, 2003, 40 (07) :e89
[9]   A photic visual cycle of rhodopsin regeneration is dependent on Rgr [J].
Chen, P ;
Hao, WS ;
Rife, L ;
Wang, XP ;
Shen, DW ;
Chen, J ;
Ogden, T ;
Van Boemel, GB ;
Wu, LY ;
Yang, M ;
Fong, HKW .
NATURE GENETICS, 2001, 28 (03) :256-260
[10]   Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12) [J].
den Hollander, AI ;
ten Brink, JB ;
de Kok, YJM ;
van Soest, S ;
van den Born, LI ;
van Driel, MA ;
van de Pol, DJR ;
Payne, AM ;
Bhattacharya, SS ;
Kellner, U ;
Hoyng, CB ;
Westerveld, A ;
Brunner, HG ;
Bleeker-Wagemakers, EM ;
Deutman, AF ;
Heckenlively, JR ;
Cremers, FPM ;
Bergen, AAB .
NATURE GENETICS, 1999, 23 (02) :217-221