Novel nonsense mutation in exon 15 of the APC gene in one Jewish family

被引：0
|
作者：
Monakov, O
Shemesh, E
Bar-Meir, S
Gazit, E [1 ]
机构：
[1] Chaim Sheba Med Ctr, Tissue Typing Lab, IL-52621 Ramat Gan, Israel
[2] Chaim Sheba Med Ctr, Dept Gastroenterol, IL-52621 Ramat Gan, Israel
来源：
HUMAN MUTATION | 1998年
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：
引用
收藏
页码：S55 / S55
页数：1
相关论文
共 50 条
  • [41] A Chinese CADASIL Family with a Novel Mutation on Exon 10 of Notch3 Gene
    Liu, Yuan
    Huang, Shicun
    Yu, Liqiang
    Li, Tan
    Diao, Shanshan
    Chen, Zhiguo
    Zhou, Guoqing
    Sheng, Xihua
    Xu, Yuan
    Fang, Qi
    JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 2021, 30 (08):
  • [42] A novel mutation in exon 1 of the ATP2A2 gene in four members of one Chinese family with Darier disease
    Li, C.
    Xiao, Z.
    Peng, Y.
    Liu, Z.
    Zhang, Y.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2020, 45 (07) : 925 - 928
  • [43] Phenotypic Variability in Marfan Syndrome in a Family With a Novel Nonsense FBN1 Gene Mutation
    Diaz de Bustamante, Aranzazu
    Ruiz-Casares, Eva
    Teresa Darnaude, M.
    Perucho, Teresa
    Martinez-Quesada, Gabriel
    REVISTA ESPANOLA DE CARDIOLOGIA, 2012, 65 (04): : 380 - 381
  • [44] A Novel Nonsense Mutation in the MIP Gene Linked to Congenital Posterior Polar Cataracts in a Chinese Family
    Song, Zixun
    Wang, Lianqing
    Liu, Yaping
    Xiao, Wei
    PLOS ONE, 2015, 10 (03):
  • [45] Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family
    Ginjaar, IB
    Kneppers, ALJ
    von der Meulen, JDM
    Anderson, LVB
    Bremmer-Bout, M
    van Deutekom, JCT
    Weegenaar, J
    den Dunnen, JT
    Bakker, E
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (10) : 793 - 796
  • [46] A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea
    Nakamura, Katsuya
    Sekijima, Yoshiki
    Nagamatsu, Kiyoshiro
    Yoshida, Kunihiro
    Ikeda, Shu-ichi
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2012, 313 (1-2) : 189 - 192
  • [47] A Novel Nonsense Mutation in the EXT2 Gene Identified in a Family with Hereditary Multiple Osteochondromas
    Chen, Zhonghua
    Ruan, Weiwei
    Li, Menglu
    Cao, Li
    Lu, Jianwei
    Zhong, Fuhua
    Bi, Qing
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2020, 24 (08) : 478 - 483
  • [48] A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with dopa-responsive dystonia
    Hong, KM
    Kim, YS
    Paik, MK
    HUMAN HEREDITY, 2001, 52 (01) : 59 - 60
  • [49] Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family
    Ieke B Ginjaar
    Alexander LJ Kneppers
    Jan-Douwe M v d Meulen
    Louise VB Anderson
    Mattie Bremmer-Bout
    Judith CT van Deutekom
    Jitske Weegenaar
    Johan T den Dunnen
    Egbert Bakker
    European Journal of Human Genetics, 2000, 8 : 793 - 796
  • [50] Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family
    Hatsukawa, Y
    Nakao, T
    Yamagishi, T
    Okamoto, N
    Isashiki, Y
    BRITISH JOURNAL OF OPHTHALMOLOGY, 2002, 86 (12) : 1452 - 1453
12345