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Article

Connecting mutant phenylalanine hydroxylase with phenylketonuria.

Journal of clinical monitoring and computing - 1 Oct 2008

Yan Shaomin, Wu Guang

Abstract excerpt

OBJECTIVE: The building of a quantitative relationship between genotype and phenotype would be great helpful for better clinical monitoring, diagnosis, prognosis and treatment. As the phenylketonuria is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase, in this study we build a descriptively quantitative relationship between mutant phenylalanine hydroxylase and classifications...

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Share to Amino Acid Sequence
Share to DNA Mutational Analysis
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Share to Sequence Alignment

Share to Sequence Analysis, Protein

Source

Identifiers

PMID: 18773304
DOI: 10.1007/s10877-008-9139-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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