Article
Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defects.
Journal of molecular and cellular cardiology - 1 May 1997
Debrus S, Tuffery S, Matsuoka R, Galal O, Sarda P, Sauer U, Bozio A, Tanman B, Toutain A, Claustres M, Le Paslier D, Bouvagnet P
Abstract excerpt
Heterotaxy is the failure of the developing embryo to establish normal left-right asymmetry, which is often associated with multiple malformations. Previous studies have identified different mutations in the cytoplasmic tail of the connexin 43 (cx 43) gene in six patients from a series of six sporadic cases with defects of laterality and severe heart malformations. These cases showed that of the genes involved in...
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