- Tytuł:
- A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
- Autorzy:
- Źródło:
- European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Jan; Vol. 21 (1), pp. 69-75. Date of Electronic Publication: 2012 Jun 20.
- Typ publikacji:
- Journal Article; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Mutation *
Connexins/*genetics
Connexins/*metabolism
Gap Junctions/*metabolism
Tetralogy of Fallot/*genetics
Amino Acid Substitution ; Animals ; Chromosomes, Human, Pair 1 ; Embryo, Nonmammalian/pathology ; Fluorescent Dyes/metabolism ; Genetic Predisposition to Disease ; Heart/embryology ; Heterozygote ; Humans ; Microinjections ;Mutation , Missense ; Myocardium/pathology ; Pulmonary Atresia/genetics ; Zebrafish/genetics ; Gap Junction alpha-5 Protein
Czasopismo naukowe