Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions and signaling molecules. These channels consist of connexin family proteins that allow for diversity of channel composition and conductance pro...

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Main Authors: Paznekas, William A., Boyadjiev, Simeon A., Shapiro, Robert E., Daniels, Otto, Wollnik, Bernd, Keegan, Catherine E., Innis, Jeffrey W., Dinulos, Mary Beth, Christian, Cathy, Hannibal, Mark C., Jabs, Ethylin Wang
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2003
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Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC379233/
https://ncbi.nlm.nih.gov/pubmed/12457340
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