Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1

Experimental Dermatology

Volumn 11, Issue 2, 2002, Pages 107-114

  Hamada, T ^a,b   South, A P ^a   Mitsuhashi, Y ^c   Kinebuchi, T ^c   Bleck, O ^a   Ashton, G H S ^a   Hozumi, Y ^c   Suzuki, T ^d   Hashimoto, T ^b   Eady, R A J ^a   McGrath, John A ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c YAMAGATA UNIVERSITY   (Japan)

^d Yonezawa City Hospital   (Japan)

Author keywords

Armadillo protein; Blister; Cell adhesion; Desmosome; Genodermatosis; Splice site

Indexed keywords

AMINO ACID; PLAKOPHILIN 1; PROTEIN; UNCLASSIFIED DRUG; PKP1 PROTEIN, HUMAN; PLAKOPHILIN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLISTER; CASE REPORT; CLINICAL FEATURE; DESMOSOME; ECTODERMAL DYSPLASIA; ELECTRON MICROSCOPY; FEVER; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC TRANSCRIPTION; GENODERMATOSIS; GENOTYPE PHENOTYPE CORRELATION; HAIR LOSS; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; INTRON; KERATINOCYTE; KERATODERMA; MALE; MOLECULAR DYNAMICS; NAIL DYSTROPHY; NUCLEOTIDE SEQUENCE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; SCALP HAIR; SKIN BIOPSY; SPLICEOSOME; BIOPSY; GENETICS; GENOTYPE; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PHENOTYPE; SKIN; SKIN DISEASE; ULTRASTRUCTURE;

ADULT; BASE SEQUENCE; BIOPSY; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PLAKOPHILINS; PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SKIN; SKIN DISEASES, GENETIC;

EID: 0036548393     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0625.2002.110202.x     Document Type: Article

References (17)

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