Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma

European Journal of Human Genetics

Volumn 9, Issue 3, 2001, Pages 197-203

  Hunt, Debbie M ^a   Rickman, Lisa ^a   Whittock, Neil V ^b   Eady, Robin A J ^b   Ŝimrak, Danijela ^a,c   Dopping Hepenstal, Patricia J C ^b   Stevens, Howard P ^d   Armstrong, D Keith B ^e   Hennies, Hans Christian ^f   Küster, Wolfgang ^g   Hughes, Anne E ^e   Arnemann, Joachim ^c   Leigh, Irene M ^d   Mcgrath, John A ^b   Kelsell, David P ^d   Buxton, Roger S ^a  

^a NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^d QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^e QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^f MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^g TOMESA Fachklinik ^*  (Germany)

Author keywords

Cadherin; Desmoglein; Desmosome; Dominance; Epidermis; Keratoderma

Indexed keywords

AMINO ACID; CADHERIN; DESMOGLEIN; NUCLEIC ACID;

ALLELE; AMINO ACID SEQUENCE; AMINO ACID SYNTHESIS; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DESMOSOME; EXON; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; INTRON; KERATOSIS PALMOPLANTARIS; MUTANT; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN PROCESSING; SKIN DISEASE; STOP CODON;

BASE SEQUENCE; CADHERINS; DESMOGLEIN 1; DNA PRIMERS; EXONS; HUMANS; INTRONS; KERATODERMA, PALMOPLANTAR; MUTATION;

SOLEIDAE;

EID: 0035086720     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200605     Document Type: Article

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