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
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