Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome

British Journal of Dermatology

Volumn 148, Issue 4, 2003, Pages 649-653

  Yotsumoto, Shinichi ^a   Hashiguchi, T ^a   Chen, X ^a,b   Ohtake, N ^c   Tomitaka, A ^d   Akamatsu, H ^d   Matsunaga, K ^d   Shiraishi, S ^e   Miura, H ^f   Adachi, J ^f   Kanzaki, T ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c Seaside Skin Clinic   (Japan)

^d FUJITA HEALTH UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e EHIME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f KANSAI ROSAI HOSPITAL   (Japan)

Author keywords

Candida; Connexin 26; Deafness; DNA; GJB2; Ichthyosis; Keratitis

Indexed keywords

CONNEXIN 26; GENOMIC DNA;

ARTICLE; CASE REPORT; CHILD; DNA EXTRACTION; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GJB2 GENE; HEARING IMPAIRMENT; HUMAN; ICHTHYOSIS; JAPAN; KERATITIS; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

ADULT; CHILD, PRESCHOOL; CONNEXINS; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; ICHTHYOSIS; KERATITIS; MALE; MUTATION, MISSENSE; PEDIGREE; SYNDROME;

EID: 0037565175     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2003.05245.x     Document Type: Article

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