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Figure 1 | BMC Medical Genetics

Figure 1

From: Constitutive RB1 mutation in a child conceived by in vitrofertilization: implications for genetic counseling

Figure 1

1. Partial sequence of 5' UTR of RB1 in genomic DNA showing a C>G mutation (indicated by arrow) in position -4 with respect to the initial translation ATG codon in proband (A). This alteration was not detected in the father or in other quadruplets (B, C and D). 2. Partial sequence of intron 3 in genomic DNA showing a C>T transition (indicated by arrow) in proband A and in two monozygotic sisters (C and D). This transition was absent in the father and B. 3. Partial sequence of intron 25 in genomic DNA showing a T>A transversion (indicated by arrow) in the proband A and two monozygotic sisters C and D. This transversion was absent in the father and quadruplet B. 4. Partial sequence of 5' UTR of RB1 in cDNA of proband's leukocytes showing only the g.2056C allele.

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