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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Map of mutations detected in the MRP2 gene in patients with Dubin-Johnson syndrome

Map of mutations detected in the MRP2 gene in patients with Dubin-Johnson syndrome
The vertical boxes represent the exons of the MRP2 gene. The numbers below the boxes mark the exons. 5' UTR and 3' UTR are the 5' and 3' untranslated regions. The inverted pointers labeled with alphabets, "a" through "h", above the exons denote all the mutations detected to the date in this gene.
(a) Exon-13:1669-1815del [42]. (b) IVS15, +2T>C [43]. (c) Exon-18:2302C>T (R368W) [42]. (d) Exon:18:2272-2439del [42]. (e) Exon 23: 3196 C>T (R1066X) [41]. (f)Exon-25:3449G>A (R1150H) [44] (g) Exon-25:3517A>T (I1173F) [44] (h) Exon-30:4175-4180del [39].
Note: Nomenclature of mutations in accordance with den Dunnen, JT, Antonarakis, SE. Hum Mutat 2000; 15:7.
Graphic 60737 Version 2.0

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