A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

Nature Genetics

Volumn 18, Issue 4, 1998, Pages 319-324

  Town, Margaret ^a,e   Jean, Geneviève ^a   Cherqui, Stéphanie ^b   Attard, Marlene ^b   Forestier, Lionel ^c   Whitmore, Scott A ^c   Gallen, David F ^d   Gribouval, Olivier ^d   Broyer, Michel ^a   Bates, Gillian P ^a   Hoff, William Van't ^b   Antignac, Corinne ^c  

^a GUY S HOSPITAL   (United Kingdom)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^e ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN;

AMINO ACID SEQUENCE; AMINO ACID TRANSPORT; ARTICLE; CHROMOSOME 17P; CYSTINOSIS; DISEASE MARKER; FANCONI RENOTUBULAR SYNDROME; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MARKER GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS;

EID: 0031945551     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0498-319     Document Type: Article

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