Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients

Journal of Dermatological Science

Volumn 26, Issue 2, 2001, Pages 125-132

  Ryoo, Young Wook ^a   Kim, Byung Chun ^a   Lee, Kyu Suk ^a  

^a Keimyung University   (South Korea)

Author keywords

Mitis (M RDEB) type VII collagen (COL7A1); Mutations; Recessive dystrophic epidermolysis bullosa

Indexed keywords

AMINO ACID; COLLAGEN ANTIBODY; COLLAGEN FIBER; COLLAGEN TYPE 7; POLYPEPTIDE; PRIMER DNA;

ADOLESCENT; ALLELE; ANALYTIC METHOD; ARTICLE; CASE REPORT; COLLAGEN SYNTHESIS; CONTROLLED STUDY; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KOREA; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN STRUCTURE; RECESSIVE INHERITANCE; SCHOOL CHILD; SKIN BIOPSY;

ADOLESCENT; BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD; COLLAGEN; DNA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENES, RECESSIVE; HUMANS; IMMUNOHISTOCHEMISTRY; KOREA; MALE; MUTATION; PEDIGREE;

EID: 0034988134     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0923-1811(00)00168-7     Document Type: Article

References (28)

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