Copy Number Variation Analysis in 138 Families With Steroid-Resistant Nephrotic Syndrome Identifies Homozygous Causal Deletions in PLCE1 and NPHS2 in Two Families

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作者
Pantel, Dalia [1 ,2 ]
Mertens, Nils D. [1 ]
Schneider, Ronen [1 ]
Kari, Jameela A. [3 ]
El Desoky, Sherif M. [3 ]
Bagga, Arvind [4 ]
Lim, Tze Yin [5 ]
Shril, Shirlee [1 ]
Hildebrandt, Friedhelm [1 ]
机构
[1] Boston Childrens Hosp, Boston, MA USA
[2] Heidelberg Univ, Inst Human Genet, Heidelberg, Germany
[3] King Abdulaziz Univ, Fac Med, Jeddah, Saudi Arabia
[4] All India Inst Med Sci, Div Nephrol, Dept Pediat, New Delhi, India
[5] Columbia Univ, Div Nephrol, New York, NY USA
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中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
SA-PO538
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页码:753 / 753
页数:1
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