(Q68038141)
Statements
Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity (English)
C. A. Warner
M. B. Poh-Fitzpatrick
E. F. Zaider
S. F. Tsai
1 September 1992