Molecular studies of CPSI gene: determination of genomic organization and mutation detection.

被引：0
|
作者：
Funghini, S [1 ]
Donati, MA [1 ]
Pasquini, E [1 ]
Zammarchi, E [1 ]
Morrone, A [1 ]
机构：
[1] Univ Florence, Dept Pediat, Florence, Italy
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2002年 / 71卷 / 04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：
1450
引用
收藏
页码：418 / 418
页数：1
相关论文
共 50 条
  • [1] Genomic organization and molecular characterization of the human ninein gene
    Hong, YR
    Chen, CH
    Chuo, MH
    Liou, SY
    Howng, SL
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2000, 279 (03) : 989 - 995
  • [2] Informative molecular analyses for over 90% of hemophilia A families by direct mutation detection.
    Fujimura, FK
    Wen, CY
    Buzin, C
    Nguyen, VQ
    Li, W
    Sommer, SS
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A214 - A214
  • [3] Development of a high throughput comprehensive Sequencing assay for CFTR gene mutation detection.
    Huang, S
    Chen, C
    Peng, M
    Anderson, B
    Zoleikhaeian, M
    Olson, S
    Sun, W
    Strom, C
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 386 - 386
  • [4] Genomic organization and mutation analysis of the nebulin gene in autosomal recessive nemaline myopathy
    Pelin, K
    Holmberg, M
    Lehtokari, VL
    Donner, K
    Wallgren-Petterson, C
    NEUROMUSCULAR DISORDERS, 2002, 12 (7-8) : 757 - 757
  • [5] Human ameloblastin gene:: genomic organization and mutation analysis in amelogenesis imperfecta patients
    Mårdh, CK
    Bäckman, B
    Simmons, D
    Golovleva, I
    Gu, TT
    Holmgren, G
    MacDougall, M
    Forsman-Semb, K
    EUROPEAN JOURNAL OF ORAL SCIENCES, 2001, 109 (01) : 8 - 13
  • [6] Determination of lomefloxacin in plasma samples by HPLC with fluorescence detection. Application to pharmacokinetic studies
    Garcia, MA
    Solans, C
    Calvo, A
    Royo, M
    Hernandez, E
    Rey, R
    Bregante, MA
    CHROMATOGRAPHIA, 2001, 54 (9-10) : 577 - 580
  • [7] Determination of lomefloxacin in plasma samples by HPLC with fluorescence detection. Application to pharmacokinetic studies
    M. A. Garcia
    C. Solans
    A. Calvo
    M. Royo
    E. Hernandez
    R. Rey
    M. A. Bregante
    Chromatographia, 2001, 54 : 577 - 580
  • [8] Molecular structure and organization of the wheat genomic manganese superoxide dismutase gene
    Baek, Kwang-Hyun
    Skinner, Daniel Z.
    Ling, Peng
    Chen, Xianming
    GENOME, 2006, 49 (03) : 209 - 218
  • [9] A Cargo of Amplifiable Genomic DNA is Present in Human Preimplantation Embryo-Exported Extracellular Vesicles and Assessable for Mutation Detection.
    Makieva, Sofia
    Spinella, Francesca
    Giacomini, Elisa
    Corti, Laura
    Biricik, Anil
    Fiorentino, Francesco
    Vigano, Paola
    REPRODUCTIVE SCIENCES, 2018, 25 : 109A - 109A
  • [10] A new polymorphism in the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.
    Fitzpatrick, DL
    Rausche, R
    Huizing, M
    Castellan, C
    Donazzan, G
    Gahl, WA
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 334 - 334
12345