PHYSICAL MAPPING OF THE MCDR1 (NORTH-CAROLINA MACULAR DYSTROPHY) LOCUS

被引:0
|
作者
SMALL, KW
SANCHEZ, AR
YELCHITS, SV
KELLEY, KC
JIMENEZMORILLAS, ME
MULLEN, LM
STALVEY, MS
DICKEL, CD
RAO, N
PETTENATI, MJ
机构
[1] UNIV FLORIDA,CTR MAMMALIAN GENET,DEPT OPHTHALMOL,GAINESVILLE,FL 32611
[2] WAKE FOREST UNIV,BOWMAN GRAY SCH MED,DEPT PEDIAT & GENET,WINSTON SALEM,NC 27103
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:1717 / 1717
页数:1
相关论文
共 50 条
  • [31] Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus
    Valentina Cipriani
    Raquel S. Silva
    Gavin Arno
    Nikolas Pontikos
    Ambreen Kalhoro
    Sandra Valeina
    Inna Inashkina
    Mareta Audere
    Katrina Rutka
    Bernard Puech
    Michel Michaelides
    Veronica van Heyningen
    Baiba Lace
    Andrew R. Webster
    Anthony T. Moore
    Scientific Reports, 7
  • [32] A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)
    Small, Kent W.
    Sompele, Stijn Van de
    Nuytemans, Karen
    Vincent, Andrea
    Yuregir, Ozge Ozalp
    Ciloglu, Emine
    Sariyildiz, Cahfer
    Rosseel, Toon
    Avetisjan, Jessica
    Udar, Nitin
    Vance, Jeffery M.
    Pericak-Vance, Margaret A.
    De Baere, Elfride
    Shaya, Fadi S.
    MOLECULAR VISION, 2021, 27 : 518 - 527
  • [33] AUTOSOMAL-DOMINANT MACULAR DYSTROPHY SIMULATING NORTH-CAROLINA MACULAR DYSTROPHY
    HOLZ, FG
    EVANS, K
    GREGORY, CY
    BHATTACHARYA, S
    BIRD, AC
    ARCHIVES OF OPHTHALMOLOGY, 1995, 113 (02) : 178 - 184
  • [34] NORTH-CAROLINA MACULAR DYSTROPHY IS ASSIGNED TO CHROMOSOME-6
    SMALL, KW
    WEBER, JL
    ROSES, A
    LENNON, F
    VANCE, JM
    PERICAKVANCE, MA
    GENOMICS, 1992, 13 (03) : 681 - 685
  • [35] NORTH-CAROLINA MACULAR DYSTROPHY IS LINKED TO CHROMOSOME-6
    SMALL, KW
    WEBER, JL
    ROSES, A
    LENNON, F
    VANCE, JM
    PERICAKVANCE, MA
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1992, 33 (04) : 1208 - 1208
  • [36] NORTH-CAROLINA MACULAR DYSTROPHY IN A FAMILY FROM CENTRAL-AMERICA
    RABB, MF
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1993, 34 (04) : 1304 - 1304
  • [37] NORTH-CAROLINA MACULAR DYSTROPHY - EXCLUSION MAP USING RFLPS AND MICROSATELLITES
    SMALL, KW
    WEBER, JL
    HUNG, WY
    VANCE, J
    ROSES, A
    PERICAKVANCE, M
    GENOMICS, 1991, 11 (03) : 763 - 766
  • [38] Two novel non-coding base pair mutations at the same DNASE1 site as the original North Carolina Macular Dystrophy / MCDR1 locus affecting PRDM13, in two Korean families
    Small, Leslie
    Small, Kent
    Diaz, Amber
    Joo, Kwangsic
    Woo, Se
    Seo, Yuri
    Lee, Junwon
    Han, Jinu
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)
  • [39] Clinical characterization and genetic mapping of North Carolina macular dystrophy
    Yang, Zhenglin
    Tong, Zongzhong
    Chorich, Louis J.
    Pearson, Erik
    Yang, Xian
    Moore, Anthony
    Hunt, David M.
    Zhang, Kang
    VISION RESEARCH, 2008, 48 (03) : 470 - 477
  • [40] North Carolina Macular Dystrophy
    Tsang, Stephen H.
    Sharma, Tarun
    ATLAS OF INHERITED RETINAL DISEASES, 2018, 1085 : 109 - 110