Research Paper Volume 13, Issue 19 pp 23338—23347

A novel mutation in PCK2 gene causes primary angle-closure glaucoma

Identify the disease-causing mutation in the PACG family. A heterozygous missense mutation c.977C>T (A) located in exon 9 (B) of the PCK2 gene was detected by Sanger sequencing. This nucleotide substitution results in a proline to leucine substitution p.Pro326Leu.

Figure 3. Identify the disease-causing mutation in the PACG family. A heterozygous missense mutation c.977C>T (A) located in exon 9 (B) of the PCK2 gene was detected by Sanger sequencing. This nucleotide substitution results in a proline to leucine substitution p.Pro326Leu.