Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1
Abstract Background Hereditary tyrosinemia type 1 (HT1; OMIM# 276700) is a genetic metabolism disorder caused by disease-causing variants in the fumarylacetoacetate hydrolase (FAH) gene encoding the last enzyme of the tyrosine catabolic pathway. Herein, we describe the clinical features and genetic...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
BMC,
2022-12-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |