04 November 2022>: Articles
Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand
Rare disease
Vachiravit Sriprakoon B , Chalisa Ittagornpunth B , Nakorn Puapaiboon C , Aekasit Bunyahathaipat C , Punnapat Piriyanon B , Sookkasem Khositseth D , Kitiwan Rojnueangnit A*DOI: 10.12659/AJCR.937695
Am J Case Rep 2022; 23:e937695
Figure 4. Chromatograms show a heterozygous missense pathogenic variant c.517C>T in HMBS in our patient, her father, paternal grandmother, and sister.