Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)

Human Molecular Genetics

Volumn 9, Issue 3, 2000, Pages 431-438

  Mykkänen, Juha ^a   Torrents, David ^b   Pineda, Marta ^b   Camps, Marta ^b   Yoldi, Maria Eugenia ^c   Horelli Kuitunen, Nina ^d   Huoponen, Kirsi ^a   Heinonen, Minna ^a   Oksanen, Jussi ^a   Simell, Olli ^a   Savontaus, Marja Liisa ^a   Zorzano, Antonio ^b   Palacín, Manuel ^b   Aula, Pertti ^a,e  

^a UNIVERSITY OF TURKU   (Finland)

^b UNIVERSITY OF BARCELONA   (Spain)

^c HOSPITAL DE NAVARRA   (Spain)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^e UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ARGININE; CARRIER PROTEIN; LYSINE; ORNITHINE;

AMINO ACID TRANSPORT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BASOLATERAL MEMBRANE; CELL MEMBRANE; CLINICAL ARTICLE; EPITHELIUM CELL; FINLAND; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE MUTATION; HUMAN; HYPERAMMONEMIA; IMMUNOHISTOCHEMISTRY; INTESTINE; KIDNEY TUBULE; MISSENSE MUTATION; NONSENSE MUTATION; OOCYTE; PRIORITY JOURNAL; PROTEIN INTAKE; PROTEIN INTOLERANCE; TANDEM REPEAT; XENOPUS;

XENOPUS;

EID: 0342445416     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.3.431     Document Type: Article

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