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First successful application of preimplantation genetic diagnosis and haplotyping for congenital hyperinsulinism Wafa Qubbaj, Abdulrahman Al-Swaid, Saad Al-Hassan, Khalid Awartani, Hesham Deek, Serdar Coskun Reproductive BioMedicine Online Volume 22, Issue 1, Pages (January 2011) DOI: /j.rbmo Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions
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Figure 1 The sequence showing the presence of c.DNA 902 G>C (p.R301P) mutation in the KCNJ11 gene along with the normal and heterozygous sequences. Reproductive BioMedicine Online , 72-79DOI: ( /j.rbmo ) Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions
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Figure 2 Diagram showing the haplotyping analysis of DNA from the parents, the affected child, multiple displacement amplification products remaining from the first PGD-cycle embryos along with DNA from post-PGD children and PGH of second cycle. E=embryo; M=mutated; N=normal; PGD=preimplantation genetic diagnosis. Reproductive BioMedicine Online , 72-79DOI: ( /j.rbmo ) Copyright © 2010 Reproductive Healthcare Ltd. Terms and Conditions
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