A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa

Journal of Dermatological Science

Volumn 28, Issue 3, 2002, Pages 181-186

  Wu, Yan ^a   Li, Guanqun ^a   Zhu, Xuejun ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

BPAG2; GABEB; Mutations

Indexed keywords

ANTIGEN; BULLOUS PEMPHIGOID ANTIGEN; CYSTEINE; DNA; MONOCLONAL ANTIBODY; NUCLEOTIDE; SERINE; UNCLASSIFIED DRUG;

ADULT; ALLELE; ALOPECIA; ARTICLE; ATROPHIC SKIN DISEASE; BASEMENT MEMBRANE; BLISTER; CHINESE; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA; EXON; FEMALE; GENE MUTATION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC STRAIN; HOMOZYGOSITY; HUMAN; IMMUNOFLUORESCENCE TEST; MEDICAL EXAMINATION; PRIORITY JOURNAL; PROGENY; PROTEIN DOMAIN; ULTRASTRUCTURE;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; ATROPHY; AUTOANTIGENS; CARRIER PROTEINS; CHINA; COLLAGEN; CYTOSKELETAL PROTEINS; DNA; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENE FREQUENCY; HOMOZYGOTE; HUMANS; MICROSCOPY, ELECTRON; NERVE TISSUE PROTEINS; NON-FIBRILLAR COLLAGENS; POINT MUTATION;

EID: 0036129202     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0923-1811(01)00163-3     Document Type: Article

References (10)

1. Epidermolysis bullosa hereditaria with junctional blistering in an adult
2. Generalized atrophic benign epidermolysis bullosa
3. Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180
4. Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullous
5. A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen(BPAG2) in a family with generalized atrophic benign epidermolysis bullosa
6. A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represent propagation of an ancestral allele
7. Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa
8. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition
9. LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: Consequences at the mRNA and protein levels
10. The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1