An intragenic polymorphism in the tuberous sclerosis 2 (TSC2) gene detected by restriction endonuclease fingerprinting

被引：0
|
作者：
vanBakel, I [1 ]
Sepp, T [1 ]
Yates, JRW [1 ]
Green, AJ [1 ]
机构：
[1] ADDENBROOKES NHS TRUST,DEPT CLIN GENET,CAMBRIDGE,ENGLAND
来源：
CYTOGENETICS AND CELL GENETICS | 1996年 / 72卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
引用
收藏
页码：22 / 22
页数：1
相关论文
共 50 条
  • [21] Novel nonsense mutation of the TSC2 gene in a case of tuberous sclerosis complex
    Chen, Hui
    Lin, Xuefei
    Lian, Shi
    Zhu, Wei
    EUROPEAN JOURNAL OF DERMATOLOGY, 2016, 26 (03) : 295 - 296
  • [22] Multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis with a TSC2 gene
    Maruyama, H
    Seyama, K
    Sobajima, J
    Kitamura, K
    Sobajima, T
    Fukuda, T
    Hamada, K
    Tsutsumi, M
    Hino, O
    Konishi, Y
    MODERN PATHOLOGY, 2001, 14 (06) : 609 - 614
  • [23] Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis
    Astrinidis, A
    Khare, L
    Carsillo, T
    Smolarek, T
    Au, KS
    Northrup, H
    Henske, EP
    JOURNAL OF MEDICAL GENETICS, 2000, 37 (01) : 55 - 57
  • [24] Novel nonsense mutation of the TSC2 gene in a case of tuberous sclerosis complex
    Hui Chen
    Xuefei Lin
    Shi Lian
    Wei Zhu
    European Journal of Dermatology, 2016, 26 : 295 - 296
  • [25] Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish
    Maheshwar, MM
    Sandford, R
    Nellist, M
    Cheadle, JP
    Sgotto, B
    Vaudin, M
    Sampson, JR
    HUMAN MOLECULAR GENETICS, 1996, 5 (01) : 131 - 137
  • [26] Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex
    Ali, M
    Girimaji, SC
    Markandaya, M
    Shukla, AK
    Sacchidanand, S
    Kumar, A
    ACTA NEUROLOGICA SCANDINAVICA, 2005, 111 (01): : 54 - 63
  • [27] A novel splice site associated polymorphism in the tuberous sclerosis 2 (TSC2) gene may predispose to the development of sporadic gangliogliomas
    Platten, M
    MeyerPuttlitz, B
    Blumcke, I
    Waha, A
    Wolf, HK
    Nothen, MM
    Louis, DN
    Sampson, JR
    vonDeimling, A
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1997, 56 (07): : 806 - 810
  • [28] TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
    Rosset, Clevia
    Oliveira Netto, Cristina Brinckmann
    Ashton-Prolla, Patricia
    GENETICS AND MOLECULAR BIOLOGY, 2017, 40 (01) : 69 - 79
  • [29] The tuberous sclerosis genes, TSC1 and TSC2, trigger different gene expression responses
    Rosner, M
    Freilinger, A
    Lubec, G
    Hengstschläger, M
    INTERNATIONAL JOURNAL OF ONCOLOGY, 2005, 27 (05) : 1411 - 1424
  • [30] Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex
    Yu, Tingting
    He, Yingzhong
    Li, Niu
    Zhou, Yunqing
    Wang, Zhiping
    Fu, Qihua
    Wang, Jiwen
    Wang, Jian
    CLINICAL NEUROLOGY AND NEUROSURGERY, 2017, 154 : 104 - 108
12345