Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma

Human Genetics

Volumn 103, Issue 4, 1998, Pages 393-399

  Richard, Gabriela ^a,c   White, Thomas W ^b   Smith, Lisa E ^a   Bailey, Regina A ^a   Compton, John G ^a   Paul, David L ^b   Bale, Sherri J ^a,c  

^a NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c MSC 2757 ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION PROTEIN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; ELECTRIC CONDUCTIVITY; FEMALE; GENE EXPRESSION SYSTEM; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; KERATOSIS PALMOPLANTARIS; MALE; MISSENSE MUTATION; OOCYTE; PHENOTYPE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; CONNEXINS; DEAFNESS; ELECTRIC CONDUCTIVITY; FEMALE; GENES, DOMINANT; HETEROZYGOTE; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE;

EID: 0031722150     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050839     Document Type: Article

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