PAC contig and transcript map of the North Carolina macular dystrophy (MCDR1) locus

被引:0
|
作者
Small, KW [1 ]
Udar, N [1 ]
Mullen, L [1 ]
Yelchits, S [1 ]
机构
[1] UNIV CALIF LOS ANGELES,JULES STEIN EYE INST,MACULAR DIS CTR,LOS ANGELES,CA 90024
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:5338 / 5338
页数:1
相关论文
共 50 条
  • [31] 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
  • [32] 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)
  • [33] North Carolina Macular Dystrophy
    Tsang, Stephen H.
    Sharma, Tarun
    ATLAS OF INHERITED RETINAL DISEASES, 2018, 1085 : 109 - 110
  • [34] An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5
    Michaelides, M
    Johnson, S
    Tekriwal, AK
    Holder, GE
    Bellmann, C
    Kinning, E
    Woodruff, G
    Trembath, RC
    Hunt, DM
    Moore, AT
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2003, 44 (05) : 2178 - 2183
  • [35] 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
  • [36] Thirty-Year Follow-up of an African American Family with Macular Dystrophy of the Retina, Locus 1 (North Carolina Macular Dystrophy)
    Kiernan, Daniel F.
    Shah, Rohan J.
    Hariprasad, Seenu M.
    Grassi, Michael A.
    Small, Kent W.
    Kiernan, Joseph P.
    Mieler, William F.
    OPHTHALMOLOGY, 2011, 118 (07) : 1435 - 1443
  • [37] Perifoveal function in patients with North Carolina macular dystrophy: The importance of accounting for fixation locus
    Seiple, W
    Szlyk, JP
    Paliga, J
    Rabb, MF
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2006, 47 (04) : 1703 - 1709
  • [38] NORTH-CAROLINA MACULAR DYSTROPHY, AN EXCLUSION MAP USING RFLPS AND HYPERVARIABLE MICROSATELLITES
    SMALL, K
    WEBER, J
    HUNG, W
    VANCE, J
    ROSES, A
    PERICAKVANCE, M
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 359 - 359
  • [39] North Carolina macular dystrophy: a hereditary macular dystrophy with good visual prognosis
    Schworm, HD
    Ulbig, MW
    Hoops, J
    Rudolph, G
    Weber, BHF
    Ehrt, O
    Boergen, KP
    OPHTHALMOLOGE, 1998, 95 (01): : 13 - 18
  • [40] North Carolina macular dystrophy: A case report
    El Bahloul, M.
    Younes, S.
    Zahir, F.
    Chraibi, F.
    Abdellaoui, M.
    Benatiya, I.
    JOURNAL FRANCAIS D OPHTALMOLOGIE, 2019, 42 (02): : E73 - E77