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Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype corre...

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype corre...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9618490

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

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China

Publisher

Dordrecht: Springer Netherlands

Journal title

Molecular biology reports, 2022-11, Vol.49 (11), p.10409-10419

Language

English

Formats

Publication information

Publisher

Dordrecht: Springer Netherlands

More information

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

Identifiers

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

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