The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

Journal of Medical Genetics

Volumn 48, Issue 3, 2011, Pages 160-167

  Van Den Akker, Peter C ^a   Mellerio, Jemima E ^b,c   Martinez, Anna E ^c   Liu, Lu ^d   Meijer, Rowdy ^e   Dopping Hepenstal, Patricia J C ^d   Van Essen, Anthonie J ^a   Scheffer, Hans ^e   Hofstra, Robert M W ^a   McGrath, John A ^f   Jonkman, Marcel F ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

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

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

^d ST THOMAS HOSPITAL   (United Kingdom)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; COLLAGEN TYPE 7; GLYCINE;

ADOLESCENT; ADULT; AGE; AMINO ACID SUBSTITUTION; ARTICLE; BLISTER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CORRELATIONAL STUDY; DISEASE SEVERITY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MISSENSE MUTATION; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SKIN TEMPERATURE; TRIPLE HELIX;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARGININE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; GENOTYPE; GLYCINE; HUMANS; INFANT; MUTATION, MISSENSE; PHENOTYPE; SKIN;

EID: 79951813798     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.082230     Document Type: Article

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