Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering

Journal of Biological Chemistry

Volumn 273, Issue 30, 1998, Pages 19228-19234

  Hammami Hauasli, Nadja ^a   Schumann, Hauke ^a   Raghunath, Michael ^a   Kilgus, Oliver ^b   Lüthi, Ursula ^c   Luger, Thomas ^a   Bruckner Tuderman, Leena ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b UNIVERSITY OF HAMBURG   (Germany)

^c UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; GLYCINE; PROCOLLAGEN;

ARTICLE; COLLAGEN DEFECT; COLLAGEN SYNTHESIS; CONTROLLED STUDY; DERMOEPIDERMAL JUNCTION; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; ROUGH ENDOPLASMIC RETICULUM; TRIPLE HELIX;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BLISTER; CHILD; COLLAGEN; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXONS; FEMALE; GENOTYPE; GLYCINE; HUMANS; MALE; MICROSCOPY, IMMUNOELECTRON; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; SKIN;

EID: 0032563223     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.273.30.19228     Document Type: Article

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