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A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to
 

Summary: A mutation in GJB3 is associated with recessive
erythrokeratodermia variabilis (EKV) and leads to
defective trafficking of the connexin 31 protein
Irit Gottfried1
, Marina Landau2
, Fabian Glaser3
, Wei-Li Di4
, Joseph Ophir2
, Barukh Mevorah5
,
Nir Ben-Tal3
, David P. Kelsell4
and Karen B. Avraham1,*
1
Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv,
Israel, 2
Dermatology Unit, Edith Wolfson Medical Center, Holon, Israel, 3
Department of Biochemistry, George S. Wise
Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel, 4
Centre for Cutaneous Research, Barts and the London

  

Source: Avraham, Karen - Department of Human Genetics and Molecular Medicine, Tel Aviv University

 

Collections: Biology and Medicine