A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa

Biochemical and Biophysical Research Communications

Volumn 309, Issue 1, 2003, Pages 96-103

  Scaturro, Maria ^a   Posteraro, Patrizia ^b   Mastrogiacomo, Alessandro ^a   Zaccaria, Maria Letizia ^a   De Luca, Naomi ^a   Mazzanti, Cinzia ^c   Zambruno, Giovanna ^a   Castiglia, Daniele ^a  

^a Lab of Molecular and Cell Biology   (Italy)

^b Dept of Clin/Molecular Pathology ^*  (Italy)

^c LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

Author keywords

Inherited blistering skin diseases; LAMA3; LG module; Mutation; Protein folding

Indexed keywords

KALININ;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BASEMENT MEMBRANE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; ENDOPLASMIC RETICULUM; EPIDERMOLYSIS BULLOSA; FEMALE; FRAMESHIFT MUTATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN LOCALIZATION; PROTEIN SECRETION; SKIN;

EID: 0042736259     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0006-291X(03)01533-X     Document Type: Article

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