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.
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.
Authors: A G Reaume; P A de Sousa; S Kulkarni; B L Langille; D Zhu; T C Davies; S C Juneja; G M Kidder; J Rossant Journal: Science Date: 1995-03-24 Impact factor: 47.728
Authors: G B Ferrero; M Gebbia; G Pilia; D Witte; A Peier; R J Hopkin; W J Craigen; L G Shaffer; D Schlessinger; A Ballabio; B Casey Journal: Am J Hum Genet Date: 1997-08 Impact factor: 11.025
Authors: Guo-Ying Huang; Li-Jian Xie; Kaari L Linask; Chen Zhang; Xiao-Qing Zhao; Yi Yang; Guo-Min Zhou; Ying-Jie Wu; Lucrecia Marquez-Rosado; Doff B McElhinney; Elizabeth Goldmuntz; Chengyu Liu; Paul D Lampe; Bishwanath Chatterjee; Cecilia W Lo Journal: J Cardiovasc Dis Res Date: 2011-10