Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[The research of combining high resolution melting with multiplex ligation-dependent probe amplification technology in the mutation scanning for PAH gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2011

Ji Chun-yan, Sun Li-li, Cao Li-hua, Hu Yu, Huang Hong, Wang Shu-sen, Luo Yang

Abstract excerpt

OBJECTIVE: To explore the value of combining high resolution melting (HRM) with multiplex ligation-dependent probe amplification (MLPA) for detecting mutations underlying phenylketonuria. METHODS: HRM was used for detecting small mutations in phenylalanine hydroxylase gene (PAH) of 26 phenylketonuria patients. The results were verified with DNA sequencing. MLPA was used for detecting potential...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to Base Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Infant, Newborn

Share to Nucleic Acid Amplification Techniques

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Source

Identifiers

PMID: 22161097
DOI: 10.3760/cma.j.issn.1003-9406.2011.06.011

Genes

PAH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[The research of combining high resolution melting with multiplex ligation-dependent probe amplification technology in the mutation scanning for PAH gene].PMID 22161097Read ↗

[Analysis of large deletion of phenylalanine hydroxylase gene in Chinese patients with phenylketonuria].Semantic proximity Read ↗

Molecular diagnosis of Phenylketonuria in 157 Families and Prenatal Diagnosis of PhenylketonuriaSemantic proximity Read ↗

Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China.Semantic proximity Read ↗

[Multiplex ligation-dependent probe amplification and its application].Semantic proximity Read ↗

Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province.Semantic proximity Read ↗

Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis.Semantic proximity Read ↗

Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology.Semantic proximity Read ↗

[Study on Duchenne muscular dystrophy gene mutation and prenatal diagnosis].Semantic proximity Read ↗

[Mutation analysis of phenylalanine hydroxylase gene in 55 patients with phenylketonuria from Hebei province].Semantic proximity Read ↗

[Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China].Semantic proximity Read ↗

Prenatal diagnosis of Chinese families with phenylketonuria.Semantic proximity Read ↗

[Detection of mutations causing Duchenne and Becker muscular dystrophies: multiplex polymerase chain reaction vs. Multiplex ligation dependent probe amplification].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.