A novel 12-base pair deletion mutation in exon 15 of the porphobilinogen deaminase gene in a Taiwanese patient with acute intermittent porphyria.
Jun-Ichi
J
Sakabe
Shinji
S
Susa
Makoto
M
Daimon
Min-Yu
MY
Lan
Takeo
T
Kato
D000328:Adult; D005091:Exons; D005192:Family Health; D005260:Female; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D017118:Porphyria, Acute Intermittent / Q000175:diagnosis / Q000235:genetics*; D017384:Sequence Deletion; D013624:Taiwan
D011163:Hydroxymethylbilane Synthase