ABCB4 p.Ile162Lys
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PMID: 25289076
[PubMed]
Yang XF et al: "Correlation between mutation of MDR3 gene exon 6 and parenteral nutrition-associated cholestasis of preterm infants."
No.
Sentence
Comment
79
In addition, DNA sequencing revealed a further single nucleotide substitution in exon 6: C. 485 T>A (P. Ile 162 Lys) in 1/41 premature infants in the experimental group, which was a missense mutation (Fig. 3).
X
ABCB4 p.Ile162Lys 25289076:79:104
status: NEW93 Mutation position, GAAAAAGGA; nucleic acid position, C. 485T>A; protein position, P. Ile 162 Lys, missense mutation.
X
ABCB4 p.Ile162Lys 25289076:93:85
status: NEW