A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

Human Molecular Genetics

Volumn 8, Issue 7, 1999, Pages 1237-1243

  Maestrini, Elena ^a   Korge, Bernhard P ^e   Ocaña Sierra, Juan ^b   Calzolari, Elisa ^c   Cambiaghi, Stefano ^e   Scudder, Pat M ^a   Hovnanian, Alain ^a   Monaco, Anthony P ^a   Munro, Colin S ^d  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF GRANADA   (Spain)

^c Istituto di Genetica Medica   (Italy)

^d SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME 13Q; CLINICAL ARTICLE; FEMALE; FINGER MALFORMATION; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; HETEROZYGOTE; HUMAN; INFANT; KERATODERMA; MALE; MISSENSE MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 13; CONNEXINS; DEAFNESS; FEMALE; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME;

EID: 0032790899     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.7.1237     Document Type: Article

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