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A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease.
Am J Hum Genet. 2001 Oct;69(4):869-75. doi: 10.1086/323624. Epub 2001 Aug 24.
Am J Hum Genet. 2001.
PMID: 11524703
Free PMC article.
Evidence for association of SLC7A9 gene haplotypes with cystinuria manifestation in SLC7A9 mutation carriers.
Chatzikyriakidou A, Sofikitis N, Kalfakakou V, Siamopoulos K, Georgiou I.
Chatzikyriakidou A, et al.
Urol Res. 2006 Oct;34(5):299-303. doi: 10.1007/s00240-006-0060-6. Epub 2006 Jul 13.
Urol Res. 2006.
PMID: 16838140
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