Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.

Human mutation

Volumn 21, Issue 4, 2003, Pages 447-

  Schuilenga Hut, Petra H L ^a   Vlies, Pieter v d ^a   Jonkman, Marcel F ^a   Waanders, Esmé ^a   Buys, Charles H C M ^a   Scheffer, Hans ^a  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 14; CYTOKERATIN 5; KERATIN; KRT14 PROTEIN, HUMAN; KRT5 PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; CELL CULTURE; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GENETICS; HUMAN; KERATINOCYTE; MALE; METHODOLOGY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; REVIEW;

AMINO ACID SUBSTITUTION; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; HUMANS; KERATIN-14; KERATIN-5; KERATINOCYTES; KERATINS; MALE; MUTATION, MISSENSE; PHENOTYPE;

EID: 0037387857     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9124     Document Type: Review

References (34)