학술논문

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

Document Type

Article

Author

Sikonja, J.; Brecelj, J.; Zerjav Tansek, M.; Drole Torkar, A.; Debeljak, M.; Battelino, T.; Groselj, U.; Stefanova Kralj, V.; Klemencic, S.; Bertok, S.; Repic Lampret, B.; Kovac, J.; Remec, Z.I.; Lipovec, N.; Faganel Kotnik, B.; Tesarova, M.

Source

In: Molecular Genetics and Metabolism Reports. (Molecular Genetics and Metabolism Reports, March 2022, 30)

Subject

Language

English

ISSN

22144269

Online Access

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Web of Science JCR 저널정보 Scopus Find it@PNU

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Online Access

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