A novel hemizygous loss-of-function variant in the PRPS1 gene found in a patient with features of Artssyndrome, but without hearing loss and normal levels of purine/pyrimidine metabolites

被引：0
|
作者：
Puusepp, S. [1 ,2 ]
Reinson, K. [1 ,2 ]
Pajusalu, S. [1 ,2 ,3 ]
van Kuilenburg, A. B. P. [4 ]
Dobritzsch, D. [5 ]
Stenzel, W. [6 ,7 ,8 ,9 ,10 ]
Ounap, K. [1 ,2 ]
机构：
[1] Univ Tartu, Inst Clin Med, Dept Clin Genet, Fac Med, Tartu, Estonia
[2] Tartu Univ Hosp, United Labs, Dept Clin Genet, Tartu, Estonia
[3] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA
[4] Univ Amsterdam, Dept Clin Chem, Amsterdam Gastroenterol & Metab, Amsterdam UMC,Canc Ctr Amsterdam, Amsterdam, Netherlands
[5] Uppsala Univ, Dept Chem BMC, Uppsala, Sweden
[6] Charite Univ Med Berlin, Dept Neuropathol, Berlin, Germany
[7] Free Univ Berlin, Berlin, Germany
[8] Humboldt Univ, Berlin, Germany
[9] Berlin Inst Hlth, Berlin, Germany
[10] Leibniz Sci Campus Chron Inflammat, Berlin, Germany
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2020年 / 28卷 / SUPPL 1期
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D O I：
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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：
P06.41.A
引用
收藏
页码：299 / 300
页数：2
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