Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex

Human Mutation

Volumn 11, Issue 4, 1998, Pages 279-285

  Corden, Laura D ^a   Mellerio, Jemima E ^b   Gratian, Matthew J ^b   Eady, Robin A J ^b   Harper, John I ^c   Lacour, Marc ^c   Magee, Gareth ^a   Lane, E Birgitte ^a   McGrath, John A ^b   McLean, W H Irwin ^d  

^a UNIVERSITY OF DUNDEE   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^d THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

EBS; Intermediate filaments; K14; Keratin; Knockout

Indexed keywords

ARTICLE; AUTOMATION; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE CLUSTER; GENETIC ANALYSIS; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INTERMEDIATE FILAMENT; NONSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN BIOPSY;

BASE SEQUENCE; CHILD; CODON, NONSENSE; CONSANGUINITY; DNA PRIMERS; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GENES, RECESSIVE; HAPLOTYPES; HOMOZYGOTE; HUMANS; KERATINS; MALE; MICROSCOPY, ELECTRON; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SKIN;

EID: 7144257875     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:4<279::AID-HUMU5>3.0.CO;2-E     Document Type: Article

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