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Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP).
Transl Res. 2007 Feb;149(2):85-91. doi: 10.1016/j.trsl.2006.08.006.
Transl Res. 2007.
PMID: 17240319
Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.
Phillips JD, Parker TL, Schubert HL, Whitby FG, Hill CP, Kushner JP.
Phillips JD, et al.
Blood. 2001 Dec 1;98(12):3179-85. doi: 10.1182/blood.v98.12.3179.
Blood. 2001.
PMID: 11719352
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