Does Ser364Pro mutation of connexin 43 exist in Taiwanese patients with Ivemark syndrome?

Abstract excerpt

BACKGROUND: A previous study by Britz-Cunningham et al (N Engl J Med, 1995) indicated that a mutation of the connexin 43 (CX43) gap junction gene might be responsible for Ivemark syndrome. Ser364Pro substitution (TCA-->CCA) is the most common mutation located in the cytoplasmic tail domain of CX43. This domain may be an important part of the conductance channel of the gap junction. It may, therefore, result in...

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