Ocular albinism: Evidence for a defect in an intracellular signal transduction system

Nature Genetics

Volumn 23, Issue 1, 1999, Pages 108-112

  Schiaffino, M Vittoria ^a   D'Addio, Marilena ^a   Alloni, Anna ^a   Baschirotto, Cinzia ^a   Valetti, Caterina ^b   Cortese, Katia ^b   Puri, Claudia ^b   Bassi, M Teresa ^a   Colla, Cristina ^a   De Luca, Michele ^c   Tacchetti, Carlo ^b   Ballabio, Andrea ^a,d  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^d VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; MEMBRANE PROTEIN;

ANIMAL CELL; ARTICLE; CELL MEMBRANE; CELL SPECIFICITY; CONTROLLED STUDY; GENE LOCATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; KIDNEY CELL; MAMMAL CELL; MELANOCYTE; MELANOSOME; MONKEY; NONHUMAN; OCULAR ALBINISM; PIGMENT CELL; PRIORITY JOURNAL; PROTEIN BINDING; SEQUENCE HOMOLOGY; SIGNAL TRANSDUCTION;

ALBINISM, OCULAR; AMINO ACID SEQUENCE; ANIMALS; COS CELLS; EYE PROTEINS; GTP-BINDING PROTEINS; HUMANS; INTRACELLULAR MEMBRANES; LYSOSOMES; MELANOCYTES; MEMBRANE GLYCOPROTEINS; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; MUTATION, MISSENSE; RECOMBINANT PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; SIGNAL TRANSDUCTION; TRANSFECTION;

ANIMALIA; MAMMALIA;

EID: 0032820144     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/12715     Document Type: Article

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