A novel deletion mutation in keratin 5 causing the removal of 5 amino acids and elevated mutant mRNA levels in Dowling-Meara epidermolysis bullosa simplex [7]

Journal of Investigative Dermatology

Volumn 124, Issue 5, 2005, Pages 1083-1085

  Kemp, M W ^a   Klingberg, S ^b   Lloyd, L ^b   Molloy, T J ^a   Marr, P ^c   Wang, Y ^a   Murrell, G A C ^a   Murrell, D F ^a,c  

^a UNIVERSITY OF NEW SOUTH WALES   (Australia)

^b ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^c ST GEORGE HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYTOKERATIN 5; KERATIN;

AUSTRALIA; CLINICAL FEATURE; CONTROLLED STUDY; DERMATITIS HERPETIFORMIS; DNA EXTRACTION; DOWLING MEARA EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA; EXON; GENE DELETION; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; LETTER; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PUNCH BIOPSY;

EID: 18244382778     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2005.23739.x     Document Type: Letter

References (10)

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10. Vassar R, Coulombe PA, Degenstein L, et al: Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell 64:365-380, 1991