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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children

Fig. 3

Exon-trapping analysis and sequencing: a Polyacrylamide gel showed RT-PCR products. WT1 and WT2 exhibited one normal splicing RT-PCR product (442 bp); P1 exhibited a normal product of 442 bp and an additional band of 341 bp. b Sanger sequencing testified a loss of exon 20 of abnormal product compared to normal product of 442 bp. c The mosaicism level of NIPBL c.4321-1G > A was detected by pyrosequencing: the mutated allele 26.6% and the wild allele 73.4%

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172