N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma

Human Molecular Genetics

Volumn 8, Issue 6, 1999, Pages 971-976

  Rickman, Lisa ^a   Šimrak, Danijela ^a,b   Stevens, Howard P ^c   Hunt, Debbie M ^a   King, Ian A ^a   Bryant, Stephen P ^d   Eady, Robin A J ^e   Leigh, Irene M ^c   Arnemann, Joachim ^b   Magee, Anthony I ^a   Kelsell, David P ^c   Buxton, Roger S ^a  

^a NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

^b UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^c ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

^d Gemini Research Ltd   (United Kingdom)

^e ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; CALCIUM ION; CELL ADHESION MOLECULE;

AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BINDING SITE; CALCIUM BINDING; CELL JUNCTION; CHROMOSOME 18Q; CHROMOSOME MAP; CLINICAL ARTICLE; CONTROLLED STUDY; DESMOSOME; DIMERIZATION; EPIDERMIS; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HAPLOTYPE; HUMAN; HUMAN CELL; INTRON; KERATOSIS PALMOPLANTARIS; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM; SKIN BIOPSY; SKIN DISEASE; X RAY CRYSTALLOGRAPHY;

AMINO ACID SEQUENCE; BASE SEQUENCE; CADHERINS; CYTOSKELETAL PROTEINS; DESMOGLEIN 1; DESMOGLEINS; DESMOPLAKINS; DESMOSOMES; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; FOOT DERMATOSES; GENES, DOMINANT; HUMANS; KERATODERMA, PALMOPLANTAR; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICING; RNA, MESSENGER; SEQUENCE DELETION; SKIN;

SOLEIDAE;

EID: 0032970153     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.6.971     Document Type: Article

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