Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda

Journal of Investigative Dermatology

Volumn 120, Issue 3, 2003, Pages 351-355

  Marrakchi, Slaheddine ^a   Audebert, Stéphanie ^b   Bouadjar, Bakar ^c   Has, Christina ^b   Lefèvre, Caroline ^b   Munro, Colin ^d   Cure, Susan ^e   Jobard, Florence ^b   Morlot, Susanne ^f   Hohl, Daniel ^g   Prud'homme, Jean François ^h   Zahaf, Abdelmadjid ^a   Turki, Hamida ^a   Fischer, Judith ^b  

^a HEDI CHAKER HOSPITAL   (Tunisia)

^b CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^c CHU Mustapha   (Algeria)

^d NHS GREATER GLASGOW AND CLYDE   (United Kingdom)

^e CENTRE NATIONAL DE SÉQUENÇAGE   (France)

^f Institut für Humangenetik   (Germany)

^g LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^h GÉNÉTHON   (France)

Author keywords

Ancestral haplotypes; ARS (component B) mutations; Mal de Meleda; Palmoplantar keratoderma; Secreted lymphocyte antigen 6 urokinase type plasminogen activator receptor related protein 1; SLURP 1

Indexed keywords

CYSTEINE; GENE PRODUCT; SECRETED LYMPHOCYTE ANTIGEN 6 UROKINASE TYPE PLASMINOGEN ACTIVATOR RECEPTOR RELATED PROTEIN 1; TYROSINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; FAMILIAL DISEASE; GENE FUNCTION; GENE MUTATION; GENETIC CODE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KERATOSIS PALMOPLANTARIS; MAJOR CLINICAL STUDY; MAL DE MELEDA; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL;

EID: 0345701262     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2003.12062.x     Document Type: Article

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