Article
Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI).
Molecular genetics and metabolism - 1 Mar 2012
Tringham Maaria, Kurko Johanna, Tanner Laura, Tuikkala Johannes, Nevalainen Olli S, Niinikoski Harri, Näntö-Salonen Kirsti, Hietala Marja, Simell Olli, Mykkänen Juha
Abstract excerpt
Lysinuric protein intolerance (LPI) is an autosomal recessive disorder caused by mutations in cationic amino acid transporter gene SLC7A7. Although all Finnish patients share the same homozygous mutation, their clinical manifestations vary greatly. The symptoms range from failure to thrive, protein aversion, anemia and hyperammonaemia, to immunological abnormalities, nephropathy and pulmonary alveolar...
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