Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant
Sikonja, Jaka ; Brecelj, Jernej ; Zerjav Tansek, Mojca ; Repic Lampret, Barbka ; Drole Torkar, Ana ; Klemencic, Simona ; Lipovec, Neza ; Stefanova Kralj, Valentina ; Bertok, Sara ; Kovac, Jernej ; Faganel Kotnik, Barbara ; Tesarova, Marketa ; Remec, Ziga Iztok ; Debeljak, Marusa ; Battelino, Tadej ; Groselj, Urh
Molecular genetics and metabolism reports, 2022, Vol.30, p.100836-100836Texto completo disponível
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