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
  • [21] An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1)
    Sauer, CG
    Schworm, HD
    Ulbig, M
    Blankenagel, A
    Rohrschneider, K
    Pauleikhoff, D
    Grimm, T
    Weber, BHF
    JOURNAL OF MEDICAL GENETICS, 1997, 34 (12) : 961 - 966
  • [22] North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene
    Bowne, Sara J.
    Sullivan, Lori S.
    Wheaton, Dianna K.
    Locke, Kirsten G.
    Jones, Kaylie D.
    Koboldt, Daniel C.
    Fulton, Robert S.
    Wilson, Richard K.
    Blanton, Susan H.
    Birch, David G.
    Daiger, Stephen P.
    MOLECULAR VISION, 2016, 22 : 1239 - 1247
  • [23] A NEW NORTH-CAROLINA MACULAR DYSTROPHY (MCDR1) FAMILY IN TEXAS MAPS TO CHROMOSOME-6Q16
    GARCIA, CA
    GALLARDO, G
    MULLEN, L
    YELCHITS, S
    SABAD, B
    LEWIS, K
    PERICAKVANCE, M
    SMALL, K
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1995, 36 (04) : S892 - S892
  • [24] NORTH-CAROLINA MACULAR DYSTROPHY (MCDR1) - EVIDENCE OF LINKAGE DISEQUILIBRIUM IN MULTIPLE DIFFERENT FAMILIES AND GENETIC-HETEROGENEITY
    SMALL, KW
    YELCHITS, S
    MULLEN, L
    GARCIA, CA
    RABB, M
    KLEIN, R
    PANGALINI, R
    FLAXEL, C
    PUECH, B
    LEWIS, K
    PERICAKVANCE, MA
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1995, 36 (04) : S1064 - S1064
  • [25] NORTH-CAROLINA MACULAR DYSTROPHY (MCDR1) - A REVIEW AND REFINED MAPPING TO 6Q14-Q16.2
    SMALL, KW
    WEBER, J
    ROSES, A
    PERICAKVANCE, P
    OPHTHALMIC PAEDIATRICS AND GENETICS, 1993, 14 (04): : 143 - 150
  • [26] North Carolina Macular Dystrophy (NCMD/MCDR1): Haplotype analysis shows single ancestral founder in 13 American families
    Small, Kent W.
    Stone, Edwin M.
    Leys, Monique J.
    Lewis, Richard Alan
    Agemy, Steven
    Garcia, Charles A.
    Schneiderman, Todd
    Rice, Thomas A.
    Shaya, Fadi
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2020, 61 (07)
  • [27] Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy
    Ellingford, Jamie M.
    Sergouniotis, Panagiotis I.
    Jenkins, Emma
    Black, Graeme C.
    CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2017, 45 (03): : 297 - 299
  • [28] North Carolina Macular Dystrophy (NCMD/MCDR1): Analysis of our entire database, a model disease of non-coding mutations
    Small, Kent
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)
  • [29] Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus
    Cipriani, Valentina
    Silva, Raquel S.
    Arno, Gavin
    Pontikos, Nikolas
    Kalhoro, Ambreen
    Valeina, Sandra
    Inashkina, Inna
    Audere, Mareta
    Rutka, Katrina
    Puech, Bernard
    Michaelides, Michel
    van Heyningen, Veronica
    Lace, Baiba
    Webster, Andrew R.
    Moore, Anthony T.
    SCIENTIFIC REPORTS, 2017, 7
  • [30] 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