Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase

Helge Rootwelt, Janice Y. Chou, William A. Gahl, Ruud Berger, Turgay Coşkun, Else Brodtkorb, Eli Anne Kvittingen

Human Genetics · 1994 · 23 citations · 30 references

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