Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene

Journal of Investigative Dermatology

Volumn 126, Issue 4, 2006, Pages 773-776

  Titeux, Matthias ^a,b   Mazereeuw Hautier, Juliette ^a,b,c   Hadj Rabia, Smaïl ^d   Prost, Catherine ^e   Tonasso, Laure ^a,b   Fraitag, Sylvie ^d   De Prost, Yves ^d   Hovnanian, Alain ^a,b,c   Bodemer, Christine ^d  

^a INSERM   (France)

^b UNIVERSITÉ PAUL SABATIER   (France)

^c CHU PURPAN   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e UNIVERSITÉ PARIS 13   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 14; PEPTIDE;

ARTICLE; BIRTH; BLISTER; CASE REPORT; DISEASE SEVERITY; EPIDERMOLYSIS BULLOSA; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HUMAN; HUMAN TISSUE; INFANT; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATIENT; PRIORITY JOURNAL;

CHILD, PRESCHOOL; EPIDERMOLYSIS BULLOSA SIMPLEX; FRAMESHIFT MUTATION; HUMANS; INFANT; KERATIN-14; KERATINS; MALE; MUTATION, MISSENSE; SKIN;

EID: 33645017906     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700154     Document Type: Article

References (11)

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