Lysinuric protein intolerance: Update and extended mutation analysis of the SLC7A7 gene

Human Mutation

Volumn 29, Issue 1, 2008, Pages 14-21

  Sperandeo, Maria Pia ^a   Andria, Generoso ^a   Sebastio, Gianfranco ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Aminoaciduria; Cationic amino acid transport; Lysinuric protein intolerance; Mutation; SLC7A7; Y+l activity

Indexed keywords

AMINO ACID TRANSPORTER;

AMINO ACID TRANSPORT; AMINOACIDURIA; ARTICLE; BASOLATERAL MEMBRANE; FOUNDER EFFECT; GENE; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTESTINE EPITHELIUM; KIDNEY EPITHELIUM; LYSINURIC PROTEIN INTOLERANCE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SLC7A7 GENE;

AMINO ACID SEQUENCE; ANIMALS; ANTIGENS, CD98 LIGHT CHAINS; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; LYSINE; MODELS, ANIMAL; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; RENAL AMINOACIDURIAS;

EID: 38149022589     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20589     Document Type: Article

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