PT  - JOURNAL ARTICLE
AU  - M. Penman Splitt
AU  - M. Y. Tsai
AU  - J. Burn
AU  - J. A. Goodship
TI  - Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy.
AID  - 10.1136/hrt.77.4.369
DP  - 1997 Apr 01
TA  - Heart
PG  - 369--370
VI  - 77
IP  - 4
4099  - http://heart.bmj.com/content/77/4/369.short
4100  - http://heart.bmj.com/content/77/4/369.full
SO  - Heart1997 Apr 01; 77
AB  - 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.