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Egyptian Journal of Medical Human Genetics
Fig. 2 | Egyptian Journal of Medical Human Genetics

Fig. 2

From: Novel pyrroline-5-carboxylate reductase 2 (PYCR2) mutation in an Iranian patient with hypomyelinating leukodystrophy: findings of molecular and in silico investigations

Fig. 2

Sanger sequencing results of the identified PYCR2 mutation from the whole-exome sequencing analysis in the Iranian patient with hypomyelinating leukodystrophy 10 (HLD10). The homozygous PYCR2 mutation in the patient (c.135dup) and the heterozygous status of this mutation in the parents were demonstrated, respectively

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