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[Analysis of large deletion of phenylalanine hydroxylase gene in Chinese patients with phenylketonuria].

Zhonghua yi xue za zhi - 12 Apr 2016

Yan Y S, Yao F X, Hao S J, Zhang C, Chen X, Feng X, Yang T, Huang S Z

Abstract excerpt

OBJECTIVE: To analyze the types and distribution of large deletion of phenylalanine hydroxylase (PAH) gene in Chinese patients with phenylketonuria (PKU). METHODS: On the basis of 953 PKU patients from Peking Union Medical College and Gansu Province Medical Genetics Center, which were detected by directed sequencing of PAH gene between 2006 and 2014. Multiplex ligation-dependent probe amplification (MLPA) of PAH...

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Source

Identifiers

PMID: 27095776
DOI: 10.3760/cma.j.issn.0376-2491.2016.14.007

Genes

PAH

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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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