A novel missense mutation in COL7A1 in a Chinese pedigree with epidermolysis bullosa pruriginosa

Journal of Dermatological Science

Volumn 46, Issue 3, 2007, Pages 211-213

  Wang, Yang ^a   Zhao, Junyu ^a   Tu, Ping ^a   Jiang, Wei ^b   Zhu, Xuejun ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b PEKING UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; GENOMIC DNA; GLYCINE;

ADULT; ALLELE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHINESE; DISEASE SEVERITY; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EPIDERMOLYSIS BULLOSA PRURIGINOSA; FEMALE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE TEST; LETTER; MEDICAL LITERATURE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; PRURITUS; SEQUENCE ANALYSIS; TRIPLE HELIX;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; COLLAGEN TYPE VII; DNA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GLYCINE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; SKIN;

EID: 34247168510     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2007.01.004     Document Type: Letter

References (8)

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