Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome

British Journal of Dermatology

Volumn 143, Issue 4, 2000, Pages 876-883

  Martin, L ^a   Toutain, A ^a   Guillen, C ^b   Haftek, M ^c   Machet, M C ^a   Toledano, C ^a   Arbeille, B ^a   Lorette, G ^a   Rotig A ^b   Vaillant, L ^a  

^a SERVICE DE DERMATOLOGIE   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c EDOUARD HERRIOT HOSPITAL   (France)

Author keywords

A7445G mtDNA mutation; Mitochondrial genome; Palmoplantar keratoderma; Sensorineural deafness

Indexed keywords

CONNEXIN 26; ENVELOPE PROTEIN; KERATIN; LORICRIN; MITOCHONDRIAL DNA;

ADOLESCENT; ANTIBODY LABELING; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; FEMALE; HUMAN; KERATOSIS PALMOPLANTARIS; PENETRANCE; PERCEPTION DEAFNESS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 0033752630     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2000.03797.x     Document Type: Article

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