CHARACTERIZATION OF A NONSENSE MUTATION AND A 2-BASE INSERTION IN EXON-42 OF THE NEUROFIBROMATOSIS TYPE-1 GENE

被引：0
作者：
PURANDARE, SM [1 ]
LANYON, WG [1 ]
PATERSON, JS [1 ]
DAVIDSON, HR [1 ]
CONNOR, JM [1 ]
机构：
[1] UNIV GLASGOW,DUNCAN GUTHRIE INST,DEPT MED GENET,GLASGOW G3 8SJ,LANARK,SCOTLAND
来源：
JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 02期
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：153 / 153
页数：1
相关论文
共 50 条
  • [41] LINKER-INSERTION NONSENSE AND RESTRICTION-SITE DELETION MUTATIONS OF GB-GLYCOPROTEIN GENE OF HERPES-SIMPLEX VIRUS TYPE-1
    CAI, WH
    PERSON, S
    WARNER, SC
    ZHOU, JH
    DELUCA, NA
    JOURNAL OF VIROLOGY, 1987, 61 (03) : 714 - 721
  • [42] 2 CA/GT REPEAT POLYMORPHISMS IN INTRON-27 OF THE HUMAN NEUROFIBROMATOSIS TYPE-1 (NF1) GENE
    LAZARO, C
    GAONA, A
    ESTIVILL, X
    HUMAN GENETICS, 1994, 93 (03) : 351 - 352
  • [43] ABSENCE OF MUTATION AT THE GAP-RELATED DOMAIN OF THE NEUROFIBROMATOSIS TYPE-1 GENE IN SPORADIC NEUROFIBROSARCOMAS AND OTHER BONE AND SOFT-TISSUE SARCOMAS
    GOMEZ, L
    BARRIOS, C
    KREICBERGS, A
    ZETTERBERG, A
    PESTANA, A
    CASTRESANA, JS
    CANCER GENETICS AND CYTOGENETICS, 1995, 81 (02) : 173 - 174
  • [44] Generation and characterization of a novel rat model of primary hyperoxaluria type 1 with a nonsense mutation in alanine-glyoxylate aminotransferase gene
    Li, Yueyan
    Zheng, Rui
    Xu, Guofeng
    Huang, Yunteng
    Li, Yongmei
    Li, Dali
    Geng, Hongquan
    AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY, 2021, 320 (03) : F475 - F484
  • [45] EVIDENCE FOR THE PRESENCE OF 2 AMINO-TERMINAL ISOFORMS OF NEUROFIBROMIN, A GENE-PRODUCT RESPONSIBLE FOR NEUROFIBROMATOSIS TYPE-1
    SUZUKI, H
    TAKAHASHI, K
    SHIBAHARA, S
    TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 1995, 175 (04) : 225 - 233
  • [46] EXPRESSION OF 2 NEW-PROTEIN ISOFORMS OF THE NEUROFIBROMATOSIS TYPE-1 GENE-PRODUCT, NEUROFIBROMIN, IN MUSCLE TISSUES
    GUTMANN, DH
    GEIST, RT
    ROSE, K
    WRIGHT, DE
    DEVELOPMENTAL DYNAMICS, 1995, 202 (03) : 302 - 311
  • [47] Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I
    S Yoshida
    Y Yamaji
    R Kuwahara
    A Yoshida
    T Hisatomi
    A Ueno
    T Ishibashi
    Eye, 2006, 20 : 743 - 745
  • [48] A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa
    Shen, JJ
    Bao, Y
    Chen, YT
    HUMAN MUTATION, 1997, 9 (01) : 37 - 40
  • [49] A nonsense mutation in the ISL-1 gene identified in a type 2 diabetic patient with strong family history.
    Shimomura, H
    Sanke, T
    Hanabusa, T
    Nakagawa, T
    Shimajiri, Y
    Tsunoda, K
    Nanjo, K
    DIABETOLOGIA, 1999, 42 : A119 - A119
  • [50] A TSP509I VARIANT IN EXON-13 OF THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE ALLOWS THE IDENTIFICATION OF BOTH ALLELES AT THE MESSENGER-RNA LEVEL
    REGNIER, V
    DANGLOT, G
    NGUYEN, VC
    BERNHEIM, A
    HUMAN GENETICS, 1995, 96 (01) : 131 - 132
12345