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Table 1 Clinical and molecular findings of the proband and first-degree relatives

From: Many pitfalls in diagnosis of acute intermittent porphyria: a case report

  Family Age (years) Clinical status HMBS gene mutation
A Proband 33 Symptomatic Present (heterozygous)
B Mother 65 Hypertension, Impaired renal function Present (heterozygous)
C Brother 35 Asymptomatic Present (heterozygous)
D Sister 31 Asymptomatic Absent
E First son 3.5 Asymptomatic Present (heterozygous)
F Second son 2.5 Asymptomatic Present (heterozygous)