Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene

Clinical and Experimental Dermatology

Volumn 24, Issue 5, 1999, Pages 412-415

  Moraru, R ^a   Cserhalmi Friedman, P B ^a   Grossman, M E ^a   Schneiderman, P ^a   Christiano, A M ^a  

^a College of Physicians and Surgeons ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLUTAMIC ACID; KERATIN; VALINE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLISTER; CASE REPORT; CHROMOSOME 12Q; FEMALE; GERMANY; HUMAN; HYPERKERATOSIS; ICHTHYOSIS; KERATINIZATION; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; HUMANS; HYPERKERATOSIS, EPIDERMOLYTIC; KERATIN-2; KERATINS; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 0032852841     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2230.1999.00514.x     Document Type: Article

References (19)

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