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Figure 2 | Journal of Medical Case Reports

Figure 2

From: Identification of a novel de novo mutation in the NIPBL gene in an Iranian patient with Cornelia de Lange syndrome: A case report

Figure 2

Sequencing of the NIPBL gene. (A) Chromograph from the affected individual showing a heterozygous deletion of a thymidine (-T) at codon 516 (black arrow). (B) Chromograph from a healthy individual with a wild-type sequence. Letters between both chromographs indicate the partial cDNA sequence of the NIPBL gene with corresponding codons beginning with codon 511.

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Journal of Medical Case Reports

ISSN: 1752-1947