Evaluation of a Novel Missense Mutation in <i>ABCB4</i> Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3

<div>Structural and genetic analysis of <i>ABCB4</i>. (a) Sanger sequencing results showed a homozygous nucleotide change in the patient at nucleotide position 1195 from guanine to cytosine (c.1195G&gt;C), leading to an amino acid change from valine to leucine at position 399 of MDR3 (p.V399L). Both parents were heterozygous for this mutation. (b) Structural domains of MDR3 depicting p.V399L mutation near first walker A motif of intracellular domain 3 (ICD3).</div>

Disease Markers

fig2

Figure 2

Figure 2: Evaluation of a Novel Missense Mutation in <i>ABCB4</i> Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3 

Disease Markers

Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3

Figure 2