A novel 19-bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack.
Yrjönen
A
A
Pischik
E
E
Mehtälä
S
S
Kauppinen
R
R
D000328:Adult; D005091:Exons; D005260:Female; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics* / Q000652:urine; D017118:Porphyria, Acute Intermittent / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D012206:Rhabdomyolysis / Q000209:etiology / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
D011163:Hydroxymethylbilane Synthase