A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma

Journal of Dermatology

Volumn 29, Issue 3, 2002, Pages 168-171

  Saeki, Hidehisa ^a   Hattori, Naoko ^a   Mitsui, Hiroshi ^a   Adachi, Makoto ^b   Imakado, Sumihisa ^c   Ishibashi, Yasumasa ^d   Tamaki, Kunihiko ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b TEIKYO UNIVERSITY   (Japan)

^c UNIVERSITY OF TSUKUBA   (Japan)

^d TOKYO TEISHIN HOSPITAL   (Japan)

Author keywords

Arg 156 Cys; BCIE; Keratin 10 gene; Palmoplantar keratoderma

Indexed keywords

ARGININE; CYSTEINE; CYTOSINE; GUANINE; KERATIN; KERATIN 10; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL VACUOLE; CLINICAL FEATURE; CODON; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; EROSION; ERYTHEMA; ETHNIC DIFFERENCE; FEMALE; GENE MUTATION; GENE SEQUENCE; HISTOLOGY; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; JAPAN; PHYSICAL EXAMINATION; PROTEIN ASSEMBLY; RACE DIFFERENCE; SEQUENCE ANALYSIS; SYMPTOM;

EID: 0036213256     PISSN: 03852407     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1346-8138.2002.tb00242.x     Document Type: Article

References (8)

1. Epidermolytic hyperkeratosis
2. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis
3. The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific keratin genes
4. Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis
5. Mutations in the rod 1A domain of keratins 1 nad 10 in bullous congenital ichthosiform erythroderma (BCIE)
6. A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis
7. Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis
8. Clinical heterogeneity in epidermolytic hyperkeratosis