A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa.

Human mutation

Volumn 16, Issue 3, 2000, Pages 275-

  Gardella, R ^a   Barlati, S ^a   Zoppi, N ^a   Tadini, G ^a   Colombi, M ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; CYTOSINE; THYMINE;

ARTICLE; CASE REPORT; CELL CULTURE; CHILD; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENETIC TRANSCRIPTION; GENETICS; HETERODUPLEX ANALYSIS; HUMAN; MALE; MUTATION; PROMOTER REGION; RECESSIVE GENE;

CELLS, CULTURED; CHILD; COLLAGEN; CYTOSINE; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENES, RECESSIVE; HETERODUPLEX ANALYSIS; HUMANS; MALE; MUTATION; PROMOTER REGIONS (GENETICS); THYMINE; TRANSCRIPTION, GENETIC;

EID: 17144473207     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(200009)16:3<275::AID-HUMU22>3.0.CO;2-9     Document Type: Article

References (0)