Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI).

Tringham, Maaria; Kurko, Johanna; Tanner, Laura; Tuikkala, Johannes; Nevalainen, Olli S; Niinikoski, Harri; Näntö-Salonen, Kirsti; Hietala, Marja; Simell, Olli; Mykkänen, Juha

Tringham, Maaria; Kurko, Johanna; Tanner, Laura; Tuikkala, Johannes; Nevalainen, Olli S; Niinikoski, Harri; Näntö-Salonen, Kirsti; Hietala, Marja; Simell, Olli; Mykkänen, Juha.

Affiliation

Tringham M; Department of Medical Biochemistry and Genetics, University of Turku, Kiinamyllynkatu 10, 20520 Turku, Finland. maaria.tringham@utu.fi

Mol Genet Metab ; 105(3): 408-15, 2012 Mar.

Article in En | MEDLINE | ID: mdl-22221392

Subject(s)

Amino Acid Metabolism, Inborn Errors/genetics; Cationic Amino Acid Transporter 1/genetics; Cationic Amino Acid Transporter 1/metabolism; Founder Effect; Fusion Regulatory Protein 1, Light Chains/genetics; Fusion Regulatory Protein 1, Light Chains/metabolism; Lysine/urine; Mutation; Transcriptome; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors/metabolism; Amino Acid Transport System y+L; Arginine/blood; Child; Female; Finland; Gene Expression Profiling; Humans; Lysine/blood; Male; Middle Aged; Molecular Sequence Annotation; Molecular Sequence Data; Oligonucleotide Array Sequence Analysis; Ornithine/blood; Sequence Analysis, RNA; Young Adult

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Founder Effect / Cationic Amino Acid Transporter 1 / Fusion Regulatory Protein 1, Light Chains / Transcriptome / Amino Acid Metabolism, Inborn Errors / Lysine / Mutation Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2012 Type: Article Affiliation country: Finland

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