Variant analysis of the ABCR (ABCA4) gene in an AMD patient population.

被引:0
|
作者
Gilbert, JR
Schmidt, S
Postel, E
Allen, C
Scott, W
Agrawal, A
Hogan, M
Haines, J
Pericak-Vance, MA
机构
[1] Duke Univ, Dept Med, Ctr Human Genet, Durham, NC 27706 USA
[2] Vanderbilt Univ, Program Human Genet, Nashville, TN USA
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
2343
引用
收藏
页码:580 / 580
页数:1
相关论文
共 50 条
  • [42] N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population
    Rosenberg, Thomas
    Klie, Flemming
    Garred, Peter
    Schwartz, Marianne
    MOLECULAR VISION, 2007, 13 (220-22): : 1962 - 1969
  • [43] Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy
    Schmidt, S
    Postel, EA
    Agarwal, A
    Allen, IC
    Walters, SN
    De La Paz, MA
    Scott, WK
    Raines, JL
    Pericak-Vance, MA
    Gilbert, JR
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2003, 44 (07) : 2868 - 2875
  • [44] Analysis of the ABCA4 genomic locus in Stargardt disease
    Zernant, Jana
    Xie, Yajing
    Ayuso, Carmen
    Riveiro-Alvarez, Rosa
    Lopez-Martinez, Miguel-Angel
    Simonelli, Francesca
    Testa, Francesco
    Gorin, Michael B.
    Strom, Samuel P.
    Bertelsen, Mette
    Rosenberg, Thomas
    Boone, Philip M.
    Yuan, Bo
    Ayyagari, Radha
    Nagy, Peter L.
    Tsang, Stephen H.
    Gouras, Peter
    Collison, Frederick T.
    Lupski, James R.
    Fishman, Gerald A.
    Allikmets, Rando
    HUMAN MOLECULAR GENETICS, 2014, 23 (25) : 6797 - 6806
  • [45] ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies
    Kitiratschky, Veronique B. D.
    Grau, Tanja
    Bernd, Antje
    Zrenner, Eberhart
    Jaegle, Herbert
    Renner, Agnes B.
    Kellner, Ulrich
    Rudolph, Guenther
    Jacobson, Samuel G.
    Cideciyan, Artur V.
    Schaich, Simone
    Kohl, Susanne
    Wissinger, Bernd
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2008, 16 (07) : 812 - 819
  • [46] The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene
    B. Jeroen Klevering
    August F. Deutman
    Alessandra Maugeri
    Frans P. M. Cremers
    Carel B. Hoyng
    Graefe's Archive for Clinical and Experimental Ophthalmology, 2005, 243 : 90 - 100
  • [47] Personalized recurrence risks in Stargardt disease based on ABCA4 variant severity
    Cornelis, Stephanie Susanne
    Runhart, Esmee
    Bauwens, Miriam
    Corradi, Zelia
    De Baere, Elfride
    Roosing, Susanne
    Haer-Wigman, Lonneke
    Dhaenens, Claire-Marie
    Vulto-van Silfhout, Anneke T.
    Cremers, Frans P.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2022, 63 (07)
  • [48] Enrichment of a deep intronic ABCA4 variant in Irish Stargardt disease patients
    Whelan, Laura
    Dockery, A.
    Khan, M.
    Corradi, Z.
    Cornelis, S. S.
    Wynne, N.
    O' Byrne, J. J.
    Zhu, J.
    Stephenson, K.
    Turner, J.
    Silvestri, G.
    Keegan, D.
    Kenna, P. F.
    Roosing, S.
    Dhaenens, C. M.
    Cremers, F. P. M.
    Farrar, G. J.
    IRISH JOURNAL OF MEDICAL SCIENCE, 2021, 190 (SUPPL 2) : 66 - 66
  • [49] Investigation of ABCA4 missense variant plasma membrane trafficking in cell models
    Piccolo, Davide
    Zarouchlioti, Christina
    Bellingham, Jim
    Cheetham, Michael E.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2022, 63 (07)
  • [50] Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
    Schindler, Emily I.
    Nylen, Erik L.
    Ko, Audrey C.
    Affatigato, Louisa M.
    Heggen, Andrew C.
    Wang, Kai
    Sheffield, Val C.
    Stone, Edwin M.
    HUMAN MOLECULAR GENETICS, 2010, 19 (19) : 3693 - 3701