TY - JOUR T1 - Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy. JF - Heart JO - Heart SP - 369 LP - 370 DO - 10.1136/hrt.77.4.369 VL - 77 IS - 4 AU - M. Penman Splitt AU - M. Y. Tsai AU - J. Burn AU - J. A. Goodship Y1 - 1997/04/01 UR - http://heart.bmj.com/content/77/4/369.abstract N2 - OBJECTIVE: To determine the frequency of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy. DESIGN: Mutation screening of the terminal 200 base pairs of connexin43 gene coding sequence in a series of patients from tertiary care centres. PATIENTS: 48 patients with visceroatrial heterotaxy attending UK Regional Paediatric Cardiology Centres. RESULTS: No changes from the published connexin43 consensus sequence were found in any of the 48 patients studied. CONCLUSIONS: Germline mutations of the phosphorylation sites in teh regulatory domain of the connexin43 gene are rare in patients with visceroatrial heterotaxy. ER -