A novel 12-base pair deletion mutation in exon 15 of the porphobilinogen deaminase gene in a Taiwanese patient with acute intermittent porphyria.
Sakabe
Jun-Ichi
J
Susa
Shinji
S
Daimon
Makoto
M
Lan
Min-Yu
MY
Kato
Takeo
T
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