The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa

Journal of Dermatological Science

Volumn 34, Issue 3, 2004, Pages 195-200

  Nakamura, Hiroyuki ^a   Sawamura, Daisuke ^a   Goto, Maki ^a   Sato Matsumura, Kazuko C ^a   LaDuca, Jeffrey ^b   Lee, Julia Yu Yun ^c   Masunaga, Takuji ^d   Shimizu, Hiroshi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF ROCHESTER   (United States)

^c NATIONAL CHENG KUNG UNIVERSITY   (Taiwan)

^d KEIO UNIVERSITY   (Japan)

Author keywords

DDEB; dominant dystrophic epidermolysis bullosa; EB; EB pruriginosa; epidermolysis bullosa; Nail dystrophy; RDEB; recessive epidermolysis bullosa; Type VII collagen

Indexed keywords

GLYCINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLISTER; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HUMAN; INTRON; MALE; MUTATIONAL ANALYSIS; NAIL DYSTROPHY; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS;

ADULT; AMINO ACID SUBSTITUTION; COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FAMILY HEALTH; FEMALE; GENETIC HETEROGENEITY; GLYCINE; HUMANS; MALE; PEDIGREE; PHENOTYPE;

EID: 2142808710     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2004.02.005     Document Type: Article

References (23)

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