Revertant mosaicism: Partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation

Journal of Clinical Investigation

Volumn 103, Issue 10, 1999, Pages 1371-1377

  Darling, Thomas N ^a   Yee, Carole ^a   Bauer, Johann W ^b   Hintner, Helmut ^b   Yancey, Kim B ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b GENERAL HOSPITAL   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; MESSENGER RNA;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLISTER; CELL SUBPOPULATION; CLINICAL FEATURE; COLLAGEN SYNTHESIS; EPIDERMOLYSIS BULLOSA; FRAMESHIFT MUTATION; GENE INSERTION; GENE SEQUENCE; HUMAN; MOSAICISM; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; STOP CODON;

EID: 0032740890     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI4338     Document Type: Article

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