id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-337630-ojhk5opy	Tasic, Velibor	Clinical and Functional Characterization of URAT1 Variants	2011-12-16		.txt	text/plain	5356	313	45	reported that mutations in gene SLC22A12 encoding the URAT1 transporter were responsible for most cases of idiopathic renal hypouricaemia [3] . It is noteworthy that reports of idiopathic renal hypouricaemia secondary to mutations in uric acid transporters URAT1 and GLUT9 were initially reported from Japan, Korea and China [23] . Since the hypouricaemia was associated with an elevated FE urate , we undertook mutational analysis of SLC22A12 which revealed a heterozygous missense mutation, leading to amino acid change R434C. SLC22A12 encodes the protein URAT1 and loss of function mutations are responsible for majority of patients with idiopathic renal hypouricaemia. reported a W258X homozygous mutation in a 7 year old child, whose mother and brother were also heterozygous for W258X and had mild hypouricaemia and abnormally high FE urate , whilst his father who was also heterozygous for W258X, had a normal serum uric acid level of 4.6 mg/dL [23] .	./cache/cord-337630-ojhk5opy.txt	./txt/cord-337630-ojhk5opy.txt