Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis

American Journal of Human Genetics

Volumn 67, Issue 5, 2000, Pages 1296-1301

  Macari, Francoise ^a   Landau, Marina ^b   Cousin, Pascal ^a   Mevorah, Barukh ^b   Brenner, Sarah ^b   Panizzon, Renato ^a   Schorderet, Daniel F ^a   Hohl, Daniel ^a   Huber, Marcel ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION PROTEIN; THYMIDINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 1P; DYSKERATOSIS; ERYTHEMA; ERYTHROKERATODERMA FIGURATA VARIABILIS; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 0033760288     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9297(07)62957-7     Document Type: Article

References (24)

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