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

[Mutation analysis of FAH gene in patients with tyrosinemia type 1].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Apr 2013

Dou Li-Min, Fang Ling-Juan, Wang Xiao-Hong, Lu Wei, Chen Rui, Li Li-Ting, Zhao Jing, Wang Jian-She

Abstract excerpt

OBJECTIVE: To investigate the clinical features and mutations of the FAH gene. METHOD: Clinical records of two cases were collected, and diagnosis was made according to the diagnostic criteria of the International Organization for Rare Disorders (NORD). Genomic DNA was extracted from peripheral blood leukocytes with QIAamp DNA Mini Kit. The DNA extracts were subjected to direct sequencing for 14 exons together...

Read the complete abstract on PubMed

Topics

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

Share to Hydrolases
Share to alpha-Fetoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diarrhea

Share to Infant

Share to Rickets

Share to Tyrosine

Share to Tyrosinemias

Source

Identifiers

PMID: 23927806

Genes

FAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Mutation analysis of FAH gene in patients with tyrosinemia type 1].PMID 23927806Read ↗

[Clinical features and genetic analysis of a child with acute form of Tyrosinemia type I due to a novel variant of FAH gene].Semantic proximity Read ↗

Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I.Semantic proximity Read ↗

Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.Semantic proximity Read ↗

[Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].Semantic proximity Read ↗

Identification of the Mutations Spectrum in the Fumarylacetoacetate Hydrolase Gene in Tyrosinemia Type 1 Patients in Northeastern Iran.Semantic proximity Read ↗

Mutation spectrum of Tyrosinemia type I in Iran, A retrospective cohort study.Semantic proximity Read ↗

A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report.Semantic proximity Read ↗

[Screening for hereditary tyrosinemia and genotype analysis in newborns].Semantic proximity Read ↗

[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I].Semantic proximity Read ↗

Tyrosinaemia type I — an updateSemantic proximity Read ↗

A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.Semantic proximity Read ↗

Molecular Aspects of the FAH Mutations Involved in HT1 Disease.Semantic proximity Read ↗

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