sitosterolemia
We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia.
We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in <span class="gene" id="11099417-3-203-208">ABCG8</span> and one in ABCG5) in nine patients with <span class="disease" id="11099417-3-249-263">sitosterolemia</span>.