Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis

Experimental Dermatology

Volumn 9, Issue 1, 2000, Pages 16-19

  Arin, M J ^a   Longley, M A ^a   Epstein Jr , E H ^a   Rothnagel, J A ^a,b,c   Roop, Dennis R ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

Epidermolytic hyperkeratosis; Genodermatosis; Intermediate filaments; Keratin 1

Indexed keywords

ISOLEUCINE; KERATIN; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; CYTOLYSIS; GENE CLUSTER; GENODERMATOSIS; HUMAN; HUMAN CELL; HYPERKERATOSIS; INTERMEDIATE FILAMENT; KERATINIZATION; KERATINOCYTE; POINT MUTATION; SEQUENTIAL ANALYSIS; STRATUM CORNEUM;

ALLELES; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; DNA PRIMERS; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; HYPERKERATOSIS, EPIDERMOLYTIC; KERATINS; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 0033972811     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0625.2000.009001016.x     Document Type: Article

References (11)

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