A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein

Human Molecular Genetics

Volumn 11, Issue 11, 2002, Pages 1311-1316

  Gottfried, Irit ^a   Landau, Marina ^b   Glaser, Fabian ^a   Di, Wei Li ^c   Ophir, Joseph ^b   Mevorah, Barukh ^d   Ben Tal, Nir ^a   Kelsell, David P ^c   Avraham, Karen B ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b WOLFSON MEDICAL CENTER   (Israel)

^c QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^d TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 31; GAP JUNCTION PROTEIN; LEUCINE; PROLINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 1P; CHROMOSOME MAP; CLINICAL FEATURE; CONTROLLED STUDY; CYTOPLASM; DOMINANT INHERITANCE; ERYTHEMA; ERYTHROKERATODERMA FIGURATA VARIABILIS; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC CONSERVATION; GENETIC TRANSFECTION; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; KERATINOCYTE; KERATODERMA; KERATOSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; RECESSIVE INHERITANCE; SKIN DISEASE;

EID: 0037093306     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.11.1311     Document Type: Article

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