Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

Human Molecular Genetics

Volumn 8, Issue 1, 1999, Pages 143-148

  Keith, D ^a   Armstrong, B ^a   McKenna, Kevin E ^b   Purkis, Patricia E ^c   Green, Kathleen J ^d   Eady, Robin A J ^e   Leigh, Irene M ^c   Hughes, Anne E ^a  

^a QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^b CRAIGAVON AREA HOSPITAL   (United Kingdom)

^c ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

^d NORTHWESTERN UNIVERSITY   (United States)

^e ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DESMOPLAKIN; DNA; KERATIN;

AMINO TERMINAL SEQUENCE; ARTICLE; CASE REPORT; CELL JUNCTION; CHROMOSOME 6P; CONTROLLED STUDY; EXON; GENE MAPPING; GENETIC LINKAGE; HUMAN; HUMAN CELL; INTERMEDIATE FILAMENT; KERATOSIS PALMOPLANTARIS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; STOP CODON;

BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; CYTOSKELETAL PROTEINS; DESMOPLAKINS; DESMOSOMES; DNA; DNA PRIMERS; FEMALE; HETEROZYGOTE; HUMANS; KERATODERMA, PALMOPLANTAR; LOD SCORE; MALE; MICROSCOPY, ELECTRON; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POINT MUTATION;

SOLEIDAE;

EID: 0032930569     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.1.143     Document Type: Article

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