The spectrum of mutations in erythrokeratodermias - Novel and de novo mutations in GJB3

Human Genetics

Volumn 106, Issue 3, 2000, Pages 321-329

  Richard, Gabriele ^a   Brown, Nkecha ^a   Smith, Lisa E ^b   Terrinoni, Alessandro ^c   Melino, Gerry ^c   MacKie, Rona M ^d   Bale, Sherri J ^b   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

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

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; PHENYLALANINE; PROLINE;

AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CONTROLLED STUDY; ERYTHEMA; FAMILY STUDY; GENE DELETION; GENE MUTATION; GENODERMATOSIS; HETEROZYGOSITY; HUMAN; HYPERKERATOSIS; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

CONNEXINS; DNA MUTATIONAL ANALYSIS; ERYTHEMA; FEMALE; GENES, DOMINANT; GENOTYPE; HUMANS; KERATOSIS; MALE; MUTATION; PEDIGREE; PHENOTYPE; SKIN DISEASES;

EID: 0034073333     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051045     Document Type: Article

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