Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome

Acta Dermato-Venereologica

Volumn 85, Issue 5, 2005, Pages 386-388

  Wessagowit, Vesarat ^a   McGrath, John A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CELL JUNCTION; DESMOSOME; ECTODERMAL DYSPLASIA; EDITORIAL; EXON; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GENODERMATOSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IMMUNOHISTOCHEMISTRY; INTRON; KERATINOCYTE; NONSENSE MUTATION; PRIORITY JOURNAL; RNA ANALYSIS; SKIN FRAGILITY SYNDROME;

ECTODERMAL DYSPLASIA; HETEROZYGOTE; HUMANS; MUTATION; PLAKOPHILINS; RNA SPLICE SITES;

EID: 25144470287     PISSN: 00015555     EISSN: 16512057     Source Type: Journal    
DOI: 10.1080/00015550510011763     Document Type: Editorial

References (11)

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