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. 2016 Mar 16;157(5):1914–1928. doi: 10.1210/en.2015-2058

Figure 1.

Figure 1.

Phenotypic and genotypic data on a patient with PIGFD and P300L substitution of GRP94. A, Table with the patient's clinical and sequencing data. B, Fluorescent peak trace chromatogram depicting the sequences of the HSP90B1 gene encoding GRP94 from the patient and his parents. Note heterozygous peaks at base pair position 962 with a C-to-T substitution (red arrow) in one allele from the patient with PIGFD (top panel) and his mother (middle panel). The father's sequence (bottom panel) presents a homozygous peak with both alleles consisting of C. The C-to-T substitution changes proline 300 to leucine (amino acid position has been derived from the mature GRP94 N terminus).