Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance

British Journal of Dermatology

Volumn 155, Issue 4, 2006, Pages 834-837

  Sawamura, D ^a   Mochitomi, Y ^b   Kanzaki, T ^b   Nakamura, H ^a   Shimizu, H ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

COL7A1; Collagen; Dominant; Dystrophic epidermolysis bullosa; Recessive; Type VII collagen

Indexed keywords

AMINO ACID; COLLAGEN TYPE 7; GENOMIC DNA; MONOCLONAL ANTIBODY; PYRIMIDINE NUCLEOTIDE;

ANAMNESIS; ARTICLE; BLISTER; CASE REPORT; CLINICAL FEATURE; CODON; COL7A1 GENE; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE; GENE DELETION; GENE MUTATION; HISTOLOGY; HUMAN; IMMUNOFLUORESCENCE; INHERITANCE; MALE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN FRAGILITY;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CODON; COLLAGEN TYPE VII; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GLYCINE; HUMANS; INFANT; MALE; MUTATION; SKIN;

EID: 33748441205     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2006.07388.x     Document Type: Article

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