A MUTATION IN THE GENE ENCODING THE ALPHA-SUBUNIT OF ROD CGMP-PHOSPHODIESTERASE (PDEA) IN RETINITIS-PIGMENTOSA

被引:0
|
作者
HUANG, SH
HUANG, X
PITTLER, SJ
OLIVEIRA, L
BERSON, EL
DRYJA, TP
机构
[1] HARVARD UNIV,MASSACHUSETTS EYE & EAR INFIRM,SCH MED,HOWE & GBERMAN GUND LABS,BOSTON,MA 02114
[2] UNIV SO ALABAMA,COLL MED,DEPT BIOCHEM,MOBILE,AL 36688
[3] UNIV SO ALABAMA,COLL MED,DEPT OPHTHALMOL,MOBILE,AL 36688
[4] UNIV SO ALABAMA,COLL MED,DEPT MOLEC BIOL,MOBILE,AL 36688
关键词
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
引用
收藏
页码:S825 / S825
页数:1
相关论文
共 50 条
  • [1] AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA CAUSED BY MUTATIONS IN THE ALPHA-SUBUNIT OF ROD CGMP PHOSPHODIESTERASE
    HUANG, SH
    PITTLER, SJ
    HUANG, XH
    OLIVEIRA, L
    BERSON, EL
    DRYJA, TP
    NATURE GENETICS, 1995, 11 (04) : 468 - 471
  • [2] Frequency of mutations in the gene encoding the α subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa
    Dryja, TP
    Rucinski, DE
    Chen, SH
    Berson, EL
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1999, 40 (08) : 1859 - 1865
  • [3] MUTATIONS IN THE GENE ENCODING THE ALPHA-SUBUNIT OF THE ROD CGMP-GATED CHANNEL IN AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA
    DRYJA, TP
    FINN, JT
    PENG, YW
    MCGEE, TL
    BERSON, EL
    YAU, KW
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (22) : 10177 - 10181
  • [4] EVALUATION OF THE GENE ENCODING THE GAMMA-SUBUNIT OF ROD PHOSPHODIESTERASE IN RETINITIS-PIGMENTOSA
    HAHN, LB
    BERSON, EL
    DRYJA, TP
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1994, 35 (03) : 1077 - 1082
  • [5] RECESSIVE MUTATIONS IN THE GENE ENCODING THE BETA-SUBUNIT OF ROD PHOSPHODIESTERASE IN PATIENTS WITH RETINITIS-PIGMENTOSA
    MCLAUGHLIN, ME
    SANDBERG, MA
    BERSON, EL
    DRYJA, TP
    NATURE GENETICS, 1993, 4 (02) : 130 - 134
  • [6] MUTATION SPECTRUM OF THE GENE ENCODING THE BETA-SUBUNIT OF ROD PHOSPHODIESTERASE AMONG PATIENTS WITH AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA
    MCLAUGHLIN, ME
    EHRHART, TL
    BERSON, EL
    DRYJA, TP
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (08) : 3249 - 3253
  • [7] Subunit structure of rod cGMP-phosphodiesterase
    Artemyev, NO
    Surendran, R
    Lee, JC
    Hamm, HE
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1996, 271 (41) : 25382 - 25388
  • [8] SUBUNIT STRUCTURE OF ROD CGMP-PHOSPHODIESTERASE
    ARTEMYEV, NO
    HAMM, HE
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1991, 32 (04) : 1053 - 1053
  • [9] Microsatellite (CA)(n) polymorphism in intron 2 of the canine rod photoreceptor cGMP-phosphodiesterase alpha-subunit gene
    Veske, A
    Nilsson, SEG
    Gal, A
    ANIMAL GENETICS, 1997, 28 (05) : 380 - 380
  • [10] SITES OF INTERACTION BETWEEN ROD G-PROTEIN ALPHA-SUBUNIT AND CGMP-PHOSPHODIESTERASE GAMMA-SUBUNIT
    ARTEMYEV, NO
    RARICK, HM
    MILLS, JS
    SKIBA, NP
    HAMM, HE
    BIOPHYSICAL JOURNAL, 1993, 64 (02) : A383 - A383