Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype corre...
Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China
About this item
Full title
Author / Creator
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
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Publication information
Publisher
Dordrecht: Springer Netherlands
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Scope and Contents
Contents
Background
Phenylalanine hydroxylase deficiency (PAHD) is the most prevalent inherited disorder of amino acid metabolism in China. Its complex phenotype includes many variants and genotypes among different populations.
Methods and results
In this study, we analyzed the phenylalanine hydroxylase gene (
PAH
) variants in a cohort of 93...
Alternative Titles
Full title
Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China
Authors, Artists and Contributors
Author / Creator
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9618490
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9618490
Other Identifiers
ISSN
0301-4851
E-ISSN
1573-4978
DOI
10.1007/s11033-022-07579-8
