Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

Nature Genetics

Volumn 17, Issue 2, 1997, Pages 244-

  McGrath, John A ^a   McMillan, James R ^a   Shemanko, Carrie S ^b   Runswick, Sarah K ^c   Leigh, Irene M ^d   Lane, E Birgitte ^b   Garrod, David R ^c   Eady, Robin A J ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; PKP1 PROTEIN, HUMAN; PLAKOPHILIN; PRIMER DNA; PROTEIN;

ARTICLE; CASE REPORT; CHILD; DESMOSOME; ECTODERMAL DYSPLASIA; ELECTRON MICROSCOPY; FEMALE; GENETICS; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; POLYMERASE CHAIN REACTION; SKIN DISEASE; STOP CODON; SYNDROME; ULTRASTRUCTURE;

BASE SEQUENCE; CHILD; CODON, TERMINATOR; DESMOSOMES; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA, COMPLEMENTARY; ECTODERMAL DYSPLASIA; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSCOPY, ELECTRON; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PLAKOPHILINS; POLYMERASE CHAIN REACTION; PROTEINS; SKIN DISEASES, GENETIC; SYNDROME;

EID: 84984774604     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1097-240     Document Type: Letter

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