Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa

Acta Dermato-Venereologica

Volumn 91, Issue 3, 2011, Pages 262-266

  Almaani, Noor ^a   Liu, Lu ^a   Dopping Hepenstal, Patricia J C ^b   Lai Cheong, Joey E ^a   Wong, Alvin ^c   Nanda, Arti ^d   Moss, Celia ^c   Martinez, Anna E ^e   Mellerio, Jemima E ^e,f   Mcgrath, John A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^d As'ad Al Hamad Dermatology Centre   (Saudi Arabia)

^e Great Ormond Street Hospital NHS Trust ^*  (United Kingdom)

^f GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Basement membrane; Blister; Gene mutation; Genodermatosis; Mechanobullous

Indexed keywords

ARGININE; COLLAGEN TYPE 7; GLYCINE; SERINE;

ADOLESCENT; ADULT; AMINO ACID ANALYSIS; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; COL7A1 GENE; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; INFANT; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SKIN BIOPSY;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; BIOPSY; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE VII; DATABASES, GENETIC; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GLYCINE; HEREDITY; HUMANS; INFANT; LONDON; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION; SEVERITY OF ILLNESS INDEX; SKIN; STRUCTURE-ACTIVITY RELATIONSHIP; YOUNG ADULT;

EID: 79955741612     PISSN: 00015555     EISSN: None     Source Type: Journal    
DOI: 10.2340/00015555-1053     Document Type: Article

References (30)

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