A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa

Clinical and Experimental Dermatology

Volumn 34, Issue 8, 2009, Pages

  Shi, B J ^a   Feng, J ^a  

^a THE SECOND AFFILIATED HOSPITAL OF XI AN JIAOTONG UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; GLYCINE; TRYPTOPHAN;

ADULT; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; EPIDERMOLYSIS BULLOSA; EXON; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PRURIGO; SKIN BIOPSY;

ADULT; BASE SEQUENCE; COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENOTYPE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE;

EID: 72549093485     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2009.03271.x     Document Type: Article

References (10)

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