SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
- Author
- BORSANI, G1 ; BASSI, M. T1 ; BALLABIO, A1 3 ; SEBASTIO, G2 ; SPERANDEO, M. P2 ; DE GRANDI, A1 ; BUONINCONTI, A2 ; RIBONI, M1 ; MANZONI, M1 ; INCERTI, B1 ; PEPE, A2 ; ANDRIA, G2
[1] Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park, 20132 Milan, Italy
[2] Department of Pediatrics, Federico II University, 80131 Naples, Italy
[3] Universita' Vita e Salute, San Raffaele, 20132 Milan, Italy - Source
Nature genetics. 1999, Vol 21, Num 3, pp 297-301 ; ref : 21 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Aminoacide Chromosome D14 Etude familiale Expression génique Homme Homologie Intolérance alimentaire Lysinurie Mutation Protéine transport Spécificité tissu Séquence nucléotide Gène SLC7A7 Perméase Aminoacidopathie Hyperammoniémie Maladie héréditaire Trouble métabolisme
- Keyword (en)
- Aminoacid Chromosome D14 Family study Gene expression Human Homology Food intolerance Lysinuria Mutation Carrier protein Tissue specificity Nucleotide sequence Aminoacid disorder Hyperammonemia Genetic disease Metabolic disorder
- Keyword (es)
- Aminoácido Cromosoma D14 Estudio familiar Expresión genética Hombre Homología Intolerancia alimentaria Lisinuria Mutación Proteína transportador Especificidad tejido Secuencia nucleótido Aminoacido alteración Hiperamonemia Enfermedad hereditaria Trastorno metabolismo
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology / 002A04C Molecular genetics / 002A04C02 Genes. Genome
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D01 Aminoacid disorders
- Discipline
- Metabolic diseases Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1724751
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/6815 
https://dx.doi.org/10.1038/6815
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