Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa

Journal of Investigative Dermatology

Volumn 111, Issue 5, 1998, Pages 744-750

  Terracina, M ^a   Posterare, P ^a   Schubert, M ^a   Sonego, G ^a   Atzori, F ^a   Zambruno, G ^a   Bruckner Tuderman, L ^a   Castiglia, D ^a  

^a LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

Author keywords

Anchoring fibrils; Inherited blistering skin diseases; Molecular genetics; Type VII collagen

Indexed keywords

ARGININE; COLLAGEN TYPE 7; GLYCINE; MESSENGER RNA;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; COLLAGEN SYNTHESIS; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXTRACHROMOSOMAL INHERITANCE; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; SIBLING;

EID: 0031767968     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1998.00397.x     Document Type: Article

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