Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens

Experimental Dermatology

Volumn 9, Issue 1, 2000, Pages 11-15

  Suga, Y ^a   Arin, M J ^a   Scott, G ^b   Goldsmith, L A ^b   Magro, C M ^c   Baden, L A ^c   Baden, H P ^c   Roop, Dennis R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Genodermatosis; Ichthyosis bullosa of Siemens; Intermediate filaments; Keratin 2e

Indexed keywords

AMINO ACID; KERATIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLISTER; CODON; GENE MUTATION; GENETIC HETEROGENEITY; GENODERMATOSIS; HISTOPATHOLOGY; HUMAN; HUMAN CELL; ICHTHYOSIS; INTERMEDIATE FILAMENT; MALE; PHENOTYPE; POINT MUTATION; SEQUENTIAL ANALYSIS;

ADULT; ALLELES; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; DNA; DNA PRIMERS; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; ICHTHYOSIS; KERATIN-2; KERATINS; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 0033970508     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0625.2000.009001011.x     Document Type: Article

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