A homozygous cathepsin C mutation associated with Haim-Munk syndrome

British Journal of Dermatology

Volumn 152, Issue 2, 2005, Pages 353-356

  Cury, V F ^a   Gomez, R S ^a   Costa, J E ^a   Friedman, E ^b   Boson, W ^a   De Marco, L ^a  

^a FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^b SHEBA MEDICAL CENTER   (Israel)

Author keywords

Cathepsin C; Haim Munk syndrome; Palmoplantar hyperkeratosis; Papillon Lef vre syndrome

Indexed keywords

DIPEPTIDYL PEPTIDASE I; LEUCINE; PROLINE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CODON; ENVIRONMENTAL FACTOR; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HAIM MUNK SYNDROME; HEREDITY; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; DIPEPTIDYL PEPTIDASE I; FEMALE; HOMOZYGOTE; HUMANS; KERATODERMA, PALMOPLANTAR; MUTATION; PAPILLON-LEFEVRE DISEASE; PEDIGREE; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 14844296956     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2004.06278.x     Document Type: Article

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