Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition

American Journal of Pathology

Volumn 148, Issue 6, 1996, Pages 1787-1796

  McGrath, John A ^a,b   Gatalica, Biljana ^a   Li, Kehua ^a   Dunnill, M Giles S ^b   McMillan, James R ^b   Christiano, Angela M ^a   Eady, Robin A J ^b   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 17; GLYCINE; INTEGRIN; LAMININ; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; COLLAGEN SYNTHESIS; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA; FEMALE; GENE DUPLICATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; PHENOTYPE; PRIORITY JOURNAL;

BASE SEQUENCE; COLLAGEN; DENTAL ENAMEL; DENTAL ENAMEL HYPOPLASIA; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GENES, DOMINANT; GENES, RECESSIVE; GLYCINE; HETEROZYGOTE; HUMANS; MICROSCOPY, ELECTRON; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SKIN;

EID: 0029897474     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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