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Novel allelic variants and evidence for prevalent mutation in SLC22A12 cause renal hypouricemia: biomechanical, molecular genetics and function analysis

Stibůrková B., Sebesta I., Ichida K., Nakamura M., Hůlková H., Krylov V.

Language English Country Czech Republic

Document type Meeting Abstract

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$a Stibůrková, Blanka, $d 1970- $7 xx0056517 $u Institute of inhereted metabolic dosorders
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$a Novel allelic variants and evidence for prevalent mutation in SLC22A12 cause renal hypouricemia: biomechanical, molecular genetics and function analysis / $c Stibůrková B., Sebesta I., Ichida K., Nakamura M., Hůlková H., Krylov V.
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$a Šebesta, Ivan, $d 1959- $7 jo2003184053 $u Institute of inhereted metabolic dosorders ; Institute of clinical biochemistry and laboratory medicine, First faculty of medicine, Charles university in Prague and General university hospital in Prague, Czech republic
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$a Ichida, K. $u Department of pathophysiology, Tokyo university of pharmacy and life sciences, Tokyo, Japan ; Division of kidney and hypertension, Jikey iniversity school of medicine, Tokyo, Japan
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$a Nakamura, M. $u Division of kidney and hypertension, Jikey iniversity school of medicine, Tokyo, Japan
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$a Hůlková, Helena $7 stk2007383222 $u Institute of inhereted metabolic dosorders
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$a Krylov, Vladimír $7 xx0128644 $u Institute of inhereted metabolic dosorders ; Charles university in Prague, Fakulty of science, Department of cell biology, Czech republic
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$t Dědičné metabolické poruchy $g Roč. 28.(2013), s. 75. s. $w MED00190284
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