Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.

Human mutation

Volumn 25, Issue 4, 2005, Pages 410-

  Sperandeo, Maria Pia ^a   Annunziata, Patrizia ^a   Ammendola, Virginia ^a   Fiorito, Valentina ^a   Pepe, Antonio ^a   Soldovieri, Maria Virginia ^a   Taglialatela, Maurizio ^a   Andria, Generoso ^a   Sebastio, Gianfranco ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CD98 ANTIGEN; LYSINE; SLC7A7 PROTEIN, HUMAN;

ALLELE; ANIMAL; ARTICLE; CELL MEMBRANE; CHEMISTRY; DIMERIZATION; DOG; EPITHELIUM CELL; EXON; FEMALE; GENETICS; HUMAN; KIDNEY TUBULE; MALE; METABOLIC TRANSPORT DISORDER; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; OOCYTE; PATHOLOGY; PROTEIN TERTIARY STRUCTURE; XENOPUS LAEVIS;

ALLELES; AMINO ACID TRANSPORT DISORDERS, INBORN; ANIMALS; ANTIGENS, CD98 LIGHT CHAINS; CELL MEMBRANE; DIMERIZATION; DNA MUTATIONAL ANALYSIS; DOGS; EPITHELIAL CELLS; EXONS; FEMALE; HUMANS; KIDNEY TUBULES; LYSINE; MALE; MUTATION; OOCYTES; PROTEIN STRUCTURE, TERTIARY; XENOPUS LAEVIS;

EID: 33745426680     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9323     Document Type: Article

References (0)