Severity of phenotype in cystinosis varies with mutations in the CTNS gene: Predicted effect on the model of cystinosin

Human Molecular Genetics

Volumn 8, Issue 13, 1999, Pages 2507-2514

  Attard, Marlene ^a   Jean, Geneviève ^b   Forestier, Lionel ^b   Cherqui, Stéphanie ^b   Van't Hoff, William ^a   Broyer, Michel ^c   Antignac, Corinne ^b   Town, Margaret ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTINE; CYSTINOSIN; GENE PRODUCT; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CYSTINOSIS; DISEASE SEVERITY; GENE DELETION; GENE ISOLATION; GENE MUTATION; HUMAN; LYSOSOME MEMBRANE; MALE; MEMBRANE TRANSPORT; MISSENSE MUTATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0032712587     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.13.2507     Document Type: Article

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