MUTATION ANALYSIS IN THE CFTR GENE AND GENOTYPE-PHENOTYPE COMPARISONS

被引:0
|
作者
HILL, AJM
GRAHAM, CA
GOON, PKC
MAGEE, AC
REDMOND, AO
NEVIN, NC
机构
[1] BELFAST CITY HOSP,REG GENET CTR,BELFAST BT9 7AB,NORTH IRELAND
[2] ROYAL VICTORIA HOSP,ROYAL BELFAST HOSP SICK CHILDREN,BELFAST BT12 6BA,NORTH IRELAND
来源
CYTOGENETICS AND CELL GENETICS | 1991年 / 58卷 / 3-4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
下载
收藏
页码:1922 / 1923
页数:2
相关论文
共 50 条
  • [11] The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome
    Van Langen, IM
    Birnie, E
    Alders, M
    Jongbloed, RJ
    Le Marec, H
    Wilde, AAM
    JOURNAL OF MEDICAL GENETICS, 2003, 40 (02) : 141 - 145
  • [12] Genotype-phenotype variations in cardiomyopathies caused by a cardiac troponin I gene mutation
    Konno, T.
    Ino, H.
    Fujino, N.
    Hayashi, K.
    Uchiyama, K.
    Hayashi, T.
    Sakamoto, Y.
    Yamagishi, M.
    EUROPEAN HEART JOURNAL, 2006, 27 : 432 - 432
  • [13] Gene Mutation and Genotype-Phenotype Description in Corneal Dystrophy Associated with TGFBI Genes
    Ke, Xu
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017, 58 (08)
  • [14] GENOTYPE-PHENOTYPE CORRELATIONS IN A POPULATION ANALYSIS OF THE PHENYLALANINE HYDROXYLASE GENE
    Groselj, U.
    Tansek, Zerjav M.
    Kovac, J.
    Hovnik, T.
    Podkrajsek, Trebusak K.
    Battelino, T.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S34 - S34
  • [15] Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis
    Huang, Jiannan
    Xu, Wenshuai
    Liu, Peng
    Liu, Yaping
    Shen, Cheng
    Liu, Song
    Wang, Yani
    Wang, Jun
    Zhang, Tengyue
    He, Yudi
    Cheng, Chongsheng
    Yang, Luning
    Zhang, Weihong
    Tian, Xinlun
    Xu, Kai-Feng
    BMC PULMONARY MEDICINE, 2022, 22 (01)
  • [16] Genotype-phenotype analysis of a novel mutation of FBN1 gene in a Chinese Marfan syndrome family
    Ying Zhang
    Lin Zhang
    Peng Fan
    Kunqi Yang
    Xianliang Zhou
    中国循环杂志, 2018, (S1) : 125 - 125
  • [17] The place of androgen receptor gene mutation analysis in the molecular diagnosis of prostate cancer and genotype-phenotype relationship
    Kizilay, Fuat
    Kalemci, Mustafa Serdar
    Simsir, Adnan
    Turna, Burak
    Nazli, Oktay
    Berdeli, Afig
    TURKISH JOURNAL OF MEDICAL SCIENCES, 2014, 44 (02) : 261 - 266
  • [18] Mutation characterization and genotype-phenotype correlation in Barth syndrome
    Johnston, J
    Kelley, RI
    Feigenbaum, A
    Cox, GF
    Iyer, GS
    Funanage, VL
    Proujansky, R
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (05) : 1053 - 1058
  • [19] Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus
    Wang, Xiao-Fang
    Chen, Hui
    Huang, Peng-Juan
    Feng, Zhuo-Kun
    Hua, Zi-Qi
    Feng, Xiang
    Han, Fang
    Xu, Xiao-Tao
    Shen, Ren-Juan
    Li, Yang
    Jin, Zi-Bing
    Yu, Huan-Yun
    FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2021, 9
  • [20] Genotype-phenotype correlation in Costello syndrome:: HRAS mutation analysis in 43 cases
    Kerr, B
    Delrue, MA
    Sigaudy, S
    Perveen, R
    Marche, M
    Burgelin, I
    Stef, M
    Tang, B
    Eden, OB
    O'Sullivan, J
    De Sandre-Giovannoli, A
    Reardon, W
    Brewer, C
    Bennett, C
    Quarell, O
    M'Cann, E
    Donnai, D
    Stewart, F
    Hennekam, R
    Cavé, H
    Verloes, A
    Philip, N
    Lacombe, D
    Levy, N
    Arveiler, B
    Black, G
    JOURNAL OF MEDICAL GENETICS, 2006, 43 (05) : 401 - 405