Recessive dystrophic epidermolysis bullosa: Case of non-Hallopeau-Siemens variant with premature termination codons in both alleles

Journal of Dermatology

Volumn 33, Issue 11, 2006, Pages 802-805

  Yonei, Nozomi ^a   Ohtani, Toshio ^a   Furukawa, Fukumi ^a  

^a WAKAYAMA MEDICAL UNIVERSITY   (Japan)

Author keywords

Non Hallopeau Siemens variant; Premature termination codons (PTC) in both alleles; Recessive dystrophic epidermolysis bullosa

Indexed keywords

ALPHA TOCOPHEROL; COLLAGEN TYPE 7; GENOMIC DNA; MESSENGER RNA; PHENYTOIN; TETRACYCLINE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; DISEASE SEVERITY; DNA SEQUENCE; DRUG MEGADOSE; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXON; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; NON HALLOPEAU SIEMENS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SKIN BIOPSY;

ADULT; ALLELES; CODON, TERMINATOR; COLLAGEN; DIAGNOSIS, DIFFERENTIAL; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HUMANS;

EID: 33750305838     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/j.1346-8138.2006.00182.x     Document Type: Article

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