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
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷
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
  • [41] Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones
    Wang, Cui
    Lu, Jingru
    Lang, Yanhua
    Liu, Ting
    Wang, Xiaoling
    Zhao, Xiangzhong
    Shao, Leping
    SCIENTIFIC REPORTS, 2016, 6
  • [42] Hypothyroidism in primary hyperoxaluria type 1
    Frishberg, Y
    Feinstein, S
    Rinat, C
    Drukker, A
    JOURNAL OF PEDIATRICS, 2000, 136 (02): : 255 - 257
  • [43] Primary hyperoxaluria type 1 in japan
    Takayama, T
    Nagata, M
    Ichiyama, A
    Ozono, S
    AMERICAN JOURNAL OF NEPHROLOGY, 2005, 25 (03) : 297 - 302
  • [44] Treatment of primary hyperoxaluria type 1
    Gupta, Asheeta
    Somers, Michael J. G.
    Baum, Michelle A.
    CLINICAL KIDNEY JOURNAL, 2022, 15 (SUPPL 1) : i9 - i13
  • [45] Primary hyperoxaluria type 1 in Japan
    Ichiyama, A
    Oda, T
    Maeda-Nakai, E
    CELL BIOCHEMISTRY AND BIOPHYSICS, 2000, 32 (1-3) : 171 - 176
  • [46] Primary hyperoxaluria type 1 in Japan
    Arata Ichiyama
    Toshiaki Oda
    Eiko Maeda-Nakai
    Cell Biochemistry and Biophysics, 2000, 32 : 171 - 176
  • [47] Primary Hyperoxaluria Type 1 and Brachydactyly Mental Retardation Syndrome Caused by a Novel Mutation in AGXT and a Terminal Deletion of Chromosome 2
    Tammachote, Rachaneekorn
    Kingsuwannapong, Nelawat
    Tongkobpetch, Siraprapa
    Srichomthong, Chalurmpon
    Yeetong, Patra
    Kingwatanakul, Pornchai
    Monico, Carla G.
    Suphapeetiporn, Kanya
    Shotelersuk, Vorasuk
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (09) : 2124 - 2130
  • [48] Linkage of microsatellites to the AGXT gene on chromosome 2q37.3 and their role in prenatal diagnosis of primary hyperoxaluria type 1
    VonSchnakenburg, C
    Weir, T
    Rumsby, G
    ANNALS OF HUMAN GENETICS, 1997, 61 : 365 - 368
  • [49] Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type I
    Williams, Emma
    Rumsby, Gill
    CLINICAL CHEMISTRY, 2007, 53 (07) : 1216 - 1221
  • [50] Progression of bone lesions in a child with primary hyperoxaluria type 1: Evaluation by roentgenology and MRI
    Vichi, GF
    Bongini, U
    Seracini, D
    Lavoratti, GC
    PEDIATRIC RADIOLOGY, 1995, 25 : S102 - S104
12345