Five novel RB1 gene mutations and genotype–phenotype correlations in Chinese children with retinoblastoma

被引:0
|
作者
Luting Li
Haibo Li
Jing Zhang
Hairun Gan
Ruihong Liu
Xinyan Hu
Pengfei Pang
Bing Li
机构
[1] The Fifth Affiliated Hospital of Sun Yat-Sen University,Department of Interventional Medicine
[2] The Fifth Affiliated Hospital of Sun Yat-Sen University,Guangdong Provincial Key Laboratory of Biomedical Imaging and Guangdong Provincial Engineering Research Center of Molecular Imaging
[3] The Fifth Affiliated Hospital,Department of Ophthalmology
[4] Sun Yat-Sen University,Department of Interventional Radiology and Vascular Anomalies
[5] Guangzhou Women and Children’s Medical Center of Guangzhou Medical University,Department of Interventional Radiology, Guangdong Provincial People’s Hospital
[6] Guangdong Academy of Medical Sciences,United Laboratory of Fifth Affiliated Hospital and BGI
[7] The Fifth Affiliated Hospital of Sun Yat-Sen University,undefined
来源
关键词
RB1; Mutation; Retinoblastoma; Genetics;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:3421 / 3430
页数:9
相关论文
共 50 条
  • [31] Mutational screening of germline RB1 gene in Vietnamese patients with retinoblastoma reveals three novel mutations
    Ha Hai Nguyen
    Hoa Thi Thanh Nguyen
    Nhung Phuong Vu
    Quynh Thuy Le
    Chau Minh Pham
    Thuong Thi Huyen Ma
    Hung Manh Do
    Hang Le Bich Pham
    Ton Dang Nguyen
    Hien Thi Thu Le
    Hai Van Nong
    MOLECULAR VISION, 2018, 24 : 231 - 238
  • [32] Detection of Mosaic RB1 Mutations in Families with Retinoblastoma
    Rushlow, Diane
    Piovesan, Beata
    Zhang, Katherine
    Prigoda-Lee, Nadia L.
    Marchong, Mellone N.
    Clark, Robin D.
    Gallie, Brenda L.
    HUMAN MUTATION, 2009, 30 (05) : 842 - 851
  • [33] Mutation identification in the retinoblastoma gene (RB1)
    Gallie, B
    Rushlow, D
    Han, L
    Pittman, J
    Sutherland, J
    Liu, S
    Hui, M
    Zamora, J
    Dunn, JM
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1997, 38 (04) : 2185 - 2185
  • [34] Spectrum of RB1 Germline Mutations and Clinical Features in Unrelated Chinese Patients With Retinoblastoma
    Lan, Xiaoping
    Xu, Wuhen
    Tang, Xiaojun
    Ye, Haiyun
    Song, Xiaozhen
    Lin, Longlong
    Ren, Xiang
    Yu, Guangjun
    Zhang, Hong
    Wu, Shengnan
    FRONTIERS IN GENETICS, 2020, 11
  • [35] Rb1 GENE MUTATIONS IN OSTEOSARCOMA
    曾际斌
    宋跃
    王宜
    石玉原
    ChineseJournalofCancerResearch, 1999, (03) : 217 - 217
  • [36] CHARACTERIZATION OF MUTATIONS IN THE RB1 GENE
    DUNN, JM
    ZHU, X
    GALLIE, BL
    PHILLIPS, RA
    RECESSIVE ONCOGENES AND TUMOR SUPPRESSION, 1989, : 93 - 100
  • [37] Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma
    Richter, S
    Vandezande, K
    Chen, N
    Zhang, K
    Sutherland, J
    Anderson, J
    Han, LP
    Panton, R
    Branco, P
    Gallie, B
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (02) : 253 - 269
  • [38] RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma
    Klutz, M
    Horsthemke, B
    Lohmann, DR
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (02) : 667 - 668
  • [39] INDEPENDENT CONSTITUTIONAL GERMLINE MUTATIONS OCCURRING IN THE RB1 GENE IN COUSINS WITH BILATERAL RETINOBLASTOMA
    BIA, B
    COWELL, JK
    ONCOGENE, 1995, 11 (05) : 977 - 979
  • [40] RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling
    Parma, Diana
    Ferrer, Marcela
    Luce, Leonela
    Giliberto, Florencia
    Szijan, Irene
    PLOS ONE, 2017, 12 (12):