A sporadic case of epidermolytic hyperkeratosis caused by a novel point mutation in the keratin 1 gene [6]

Clinical and Experimental Dermatology

Volumn 31, Issue 2, 2006, Pages 286-287

  Shimomura, Y ^a   Sato, N ^a   Tomiyama, K ^a   Takahashi, A ^a   Ito, M ^a  

^a NIIGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE NUCLEOTIDE; CYTOKERATIN 1; GENOMIC DNA; GUANINE NUCLEOTIDE;

AMINO ACID SUBSTITUTION; CLINICAL FEATURE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DIAGNOSTIC APPROACH ROUTE; DIAGNOSTIC TEST; DNA EXTRACTION; DNA SEQUENCE; GENE AMPLIFICATION; GERM CELL; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HYPERKERATOSIS; INFORMED CONSENT; KERATIN 1 GENE; LETTER; MEDICAL EXAMINATION; MUTATOR GENE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; SEQUENCE ANALYSIS; SKIN BIOPSY; SOMATIC CELL; TISSUE SECTION;

HUMANS; HYPERKERATOSIS, EPIDERMOLYTIC; INFANT; KERATIN-1; KERATINS; MALE; POINT MUTATION;

EID: 33645083734     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2005.01998.x     Document Type: Letter

References (7)

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4. Chipev CC Korge BP Markova N et al. A leucine-proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis Cell 1992 70 821 8
5. Rothnagel JA Dominey AM Dempsey LD et al. Mutations in the rod domains of keratin 1 and 10 in epidermolytic hyperkeratosis Science 1992 257 1128 30
6. Lane EB McLean WHI Keratins and skin disorders J Pathol 2004 204 355 66
7. Terron-Kwiatkowski A Paller AS Compton J et al. Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1 J Invest Dermatol 2002 119 966 71