Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes

Journal of Investigative Dermatology

Volumn 117, Issue 5, 2001, Pages 1103-1107

  Cummins, Rebecca E ^a   Klingberg, Sandra ^b   Wesley, Julie ^c   Rogers, Maureen ^d   Zhao, Yali ^a,e   Murrell, Dedee F ^a,e  

^a ST GEORGE HOSPITAL   (Australia)

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

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^d CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^e UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

Bullosa; Dowling Meara epidermolysis; Epidermolysis; Herpetiformis; Hyperkeratosis; Koebner epidermolysis; Simplex; Weber Cockayne palmoplantar

Indexed keywords

KERATIN; METHIONINE; MUTANT PROTEIN; PEPTIDE; POLYPEPTIDE; THREONINE; VALINE;

ADOLESCENT; ALPHA HELIX; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CODON; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE SEVERITY; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; HUMAN; HUMAN CELL; HYDROPHOBICITY; INFANT; MALE; PHENOTYPE; POINT MUTATION; PREDICTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FAMILY; PROTEIN STRUCTURE;

EID: 0035725127     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0022-202X.2001.01508.x     Document Type: Article

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