Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
By W. Paznekas, S. Boyadjiev, R. Shapiro, O. Daniels, B. Wollnik, C. Keegan, J. Innis, M. Dinulos, Cathy Christian, M. Hannibal and 1 more. American Journal of Human Genetics, 2003
630 citations recorded by the source corpus.
Subfields: Genetics, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/ea037fa06ca52363e1bb432ee8e784d675b00d68
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- E. Beyer
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- J. Sáez
Citations in the corpus
- The Family of Connexin Genes (2009, neutral): “Oculodentodigital dysplasia [Chapter 17] CX43 [117] 1 http://www.”
- Plasma membrane channels formed by connexins: their regulation and functions. (2003, background): “abnormalities observed in some of the families (446).”