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The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III)
BACKGROUND: Different types of non-hepatorenal tyrosinemia are among the rare forms of tyrosinemia. Tyrosinemia type II and III are autosomal recessive disorders caused by pathogenic variants in the tyrosine aminotransferase (TAT), and 4-hydroxyphenyl-pyruvate dioxygenas (HPPD) genes, respectively....
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9724276/ https://www.ncbi.nlm.nih.gov/pubmed/36471409 http://dx.doi.org/10.1186/s13023-022-02579-0 |