Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP)
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2014_320
Reference29 articles.
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2. Andersson C, Lithner F (2001) Diabetic metabolism protective in severe acute intermittent porphyria. Lakartidningen 98(51–52):5874–5876
3. Barbaro M, Kotajarvi M, Harper P, Floderus Y (2013) Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria. Orphanet J Rare Dis 8:13
4. Deacon AC, Elder GH (2001) Front line tests for the investigation of suspected porphyria. ACP Best Practice No 165. J Clin Pathol 54:500–507
5. Deybach JC, de Verneuil H, Nordmann Y (1981) The inherited enzymatic defect in porphyria variegata. Hum Genet 58(4):425–428
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