The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

Nature Genetics

Volumn 32, Issue 2, 2002, Pages 300-305

  Mollet, Géraldine ^a   Salomon, Rémi ^a,b   Gribouval, Olivier ^a   Silbermann, Flora ^a   Bacq, Delphine ^c   Landthaler, Gilbert ^d   Milford, David ^e   Nayir, Ahmet ^f   Rizzoni, Gianfranco ^g   Antignac, Corinne ^a,b   Saunier, Sophie ^a  

^a INSERM   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^d HÔPITAL CHARLES NICOLLE   (France)

^e BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^f ISTANBUL UNIVERSITY   (Turkey)

^g BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

NEPHROCYSTIN; NEPHROCYSTIN 4; PROTEIN; PROTEIN NPHP4; UNCLASSIFIED DRUG;

ARTICLE; CELL ADHESION; CHROMOSOME 1P; CHROMOSOME 2Q; CHROMOSOME 3Q; CHROMOSOME 9Q; CLINICAL FEATURE; COGAN SYNDROME; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; HAPLOTYPE; HISTOLOGY; HUMAN; NEPHRONOPHTHISIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN INTERACTION; RETINITIS PIGMENTOSA; SRC HOMOLOGY DOMAIN;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMALS; CARRIER PROTEINS; CHILD; CHROMOSOME MAPPING; FEMALE; HUMANS; KIDNEY DISEASES, CYSTIC; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN BINDING; PROTEINS; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

EID: 18644368159     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng996     Document Type: Article

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