A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily

British Journal of Dermatology

Volumn 153, Issue 5, 2005, Pages 1019-1022

  Lupo, I ^a   Cefalu, A B ^b   Bongiorno, M R ^a   Daniele, O ^a   Valenti, V ^b   Noto, D ^b   Camarda, R ^a   Savettieri, G ^a   Arico M ^a   Averna, Maurizio R ^b  

^a UNIVERSITY OF PALERMO   (Italy)

^b UNIVERSITY OF PALERMO   (Italy)

Author keywords

ECM1 gene; Lipoid proteinosis; Mutation

Indexed keywords

AMYLASE; EOSIN; EXTRACELLULAR MATRIX PROTEIN 1; GENOMIC DNA; HEMATOXYLIN; SCLEROPROTEIN; UNCLASSIFIED DRUG;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; CASE REPORT; CONSANGUINITY; DISEASE ASSOCIATION; EPILEPSY; EXON; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENODERMATOSIS; HOARSENESS; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; ITALY; LIPOID PROTEINOSIS; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NEUROPSYCHIATRY; NONSENSE MUTATION; PAPULE; PERIODIC ACID SCHIFF STAIN; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN BIOPSY; SKIN NODULE; SKIN ULCER;

ADULT; BASE SEQUENCE; BIOPSY; CODON, NONSENSE; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; LIPOID PROTEINOSIS OF URBACH AND WIETHE; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMERASE CHAIN REACTION; SICILY; SKIN DISEASES, GENETIC;

EID: 27544449478     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2005.06842.x     Document Type: Article

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