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

PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets.

Journal of Korean medical science - 1 Dec 2007

Song Hae Ryong, Park Joo Won, Cho Dae Yeon, Yang Jae Hyuk, Yoon Hye Ran, Jung Sung Chul

Abstract excerpt

X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene. Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five novel mutations, in nine patients: two nonsense mutations, two missense mutations, one insertion, and three splicing acceptor/donor site mutations. Of these, c.64G>T, c.1699C>T, c.466_467 insAC,...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Familial Hypophosphatemic Rickets

Share to Gene Dosage

Share to Genetic Diseases, X-Linked

Share to Infant

Share to PHEX Phosphate Regulating Neutral Endopeptidase

Source

Open in PubMed Open full text

Identifiers

PMID: 18162710
DOI: 10.3346/jkms.2007.22.6.981
PMCID: PMC2694264

Genes

PHEX

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets.PMID 18162710Read ↗

Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.Semantic proximity Read ↗

Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets.Semantic proximity Read ↗

A clinical and molecular genetic study of hypophosphatemic rickets in children.Semantic proximity Read ↗

X-linked hypophosphatemic rickets caused by a de novo PHEX gene variation in a family.Semantic proximity Read ↗

[Gene mutation analysis of X-linked hypophosphatemic rickets].Semantic proximity Read ↗

Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets.Semantic proximity Read ↗

Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.Semantic proximity Read ↗

[Three PHEX gene mutations in Chinese subjects with hypophosphatemic rickets and literature review].Semantic proximity Read ↗

Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets.Semantic proximity Read ↗

A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets.Semantic proximity Read ↗

Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets.Semantic proximity Read ↗

Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.Semantic proximity Read ↗

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