Homozygosity for a double mutated AGXT allele in an Indian child with primary hyperoxaluria type 1

被引:0
|
作者
Pelle, A. [1 ]
Sebastiano, R. [2 ]
Cuccurullo, A. [2 ]
Pregno, G. [1 ]
Krishnamurthy, S. [3 ]
Kartha, G. Bhuvaneswaran [3 ]
Venkateswaran, V. [3 ]
Kumar, P. [3 ]
Mahadevan, S. [3 ]
Gowda, M. [4 ]
De Marchi, M. [1 ]
Giachino, D. F. [1 ]
机构
[1] Univ Torino, Dept Clin & Biol Sci, Turin, Italy
[2] AOU San Luigi Gonzaga, SSD Genet Med, Orbassano, TO, Italy
[3] JIPMER, Dept Pediat, Pondicherry, India
[4] JIPMER, Dept Obstet & Gynecol, Pondicherry, India
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
E-P03.33
引用
收藏
页码:866 / 866
页数:1
相关论文
共 50 条
  • [31] A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype–phenotype correlation
    SAOUSSEN M’DIMEGH
    CÉCILE AQUAVIVA-BOURDAIN
    ASMA OMEZZINE
    IBTIHEL M’BAREK
    GENEVIÉVE SOUCHE
    DORSAF ZELLAMA
    KAMEL ABIDI
    ABDELATTIF ACHOUR
    TAHAR GARGAH
    SAOUSSEN ABROUG
    ALI BOUSLAMA
    Journal of Genetics, 2016, 95 : 659 - 666
  • [32] Primary hyperoxaluria type 1
    Ajzensztejn, Michal J.
    Sebire, Neil J.
    Trompeter, Richard S.
    Marks, Stephen D.
    ARCHIVES OF DISEASE IN CHILDHOOD, 2007, 92 (03) : 197 - 197
  • [33] Primary Hyperoxaluria Type 1
    Thosani, Nirav
    Younes, Mamoun
    Pan, Jen-Jung
    GASTROENTEROLOGY, 2013, 145 (01) : E6 - E7
  • [34] Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I
    Naguib, Somayya
    Mansour, Lamiaa A.
    Soliman, Neveen A.
    El-Hanafy, Hadeel M.
    Fahmy, Yosra A.
    Elmonem, Mohamed A.
    Halim, Radwa M. Abdel
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2024, 28 (04) : 151 - 158
  • [35] Primary hyperoxaluria type 1
    Cochat, P
    KIDNEY INTERNATIONAL, 1999, 55 (06) : 2533 - 2547
  • [36] Whole AGXT gene sequencing identifies 13 new mutations in a cohort of 35 patients with primary hyperoxaluria type 1
    Beck, B.
    Wolf, M.
    Feldkotter, M.
    Baasner, A.
    Kemper, M.
    John, U.
    Hoppe, B.
    PEDIATRIC NEPHROLOGY, 2008, 23 (09) : 1595 - 1595
  • [37] Gene correction of AGXT locus in a set of primary hyperoxaluria type 1 patients assisted by CRISPR/Cas9 system
    Garcia-Bravo, M.
    Nieto-Romero, V.
    Garcia-Torralba, A.
    Salido, E.
    Segovia, J. C.
    HUMAN GENE THERAPY, 2017, 28 (12) : A58 - A58
  • [38] Generation of AGXT gene-corrected inducedhepatocytes with restored glyoxylate metabolic capacity as potential treatment for Primary Hyperoxaluria type 1
    Nieto-Romero, V.
    Garcia-Torralba, A.
    Molinos-Vicente, A.
    Garcia-Escudero, R.
    Salido, E.
    Segovia, J. C.
    Garcia-Bravo, M.
    HUMAN GENE THERAPY, 2022, 33 (23-24) : A139 - A139
  • [39] Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones
    Cui Wang
    Jingru Lu
    Yanhua Lang
    Ting Liu
    Xiaoling Wang
    Xiangzhong Zhao
    Leping Shao
    Scientific Reports, 6
  • [40] A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation
    M'Dimegh, Saoussen
    Aquaviva-Bourdain, Cecile
    Omezzine, Asma
    M'Barek, Ibtihel
    Souche, Genevieve
    Zellama, Dorsaf
    Abidi, Kamel
    Achour, Abdelattif
    Gargah, Tahar
    Abroug, Saoussen
    Bouslama, Ali
    JOURNAL OF GENETICS, 2016, 95 (03) : 659 - 666