Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family

European Journal of Human Genetics

Volumn 8, Issue 2, 2000, Pages 141-144

  Kelsell, David P ^a   Wilgoss, Amanda L ^a   Richard, Gabriela ^b   Stevens, Howard P ^a   Munro, Colin S ^c   Leigh, Irene M ^a  

^a ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c SOUTHERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

Connexin; Deafness; Gap junction; Keratoderma; Mutation; Polymorphism; Vohwinkel's syndrome

Indexed keywords

GAP JUNCTION PROTEIN;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; HEARING IMPAIRMENT; HUMAN; KERATOSIS PALMOPLANTARIS; PRIORITY JOURNAL;

CONNEXINS; DEAFNESS; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HETERODUPLEX ANALYSIS; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MUTATION; POINT MUTATION;

EID: 0034022965     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200407     Document Type: Article

References (12)

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