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

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

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

http://www.wikidata.org/entity/Q37222267

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A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature A Novel PHEX Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets.Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability.Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications.Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets.Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.

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P2860

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

http://www.wikidata.org/entity/Q37222267

description

article científic

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article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on December 2007

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

PHEX gene mutations and genoty ...... with hypophosphatemic rickets.

@en

PHEX gene mutations and genoty ...... with hypophosphatemic rickets.

@nl

type

label

PHEX gene mutations and genoty ...... with hypophosphatemic rickets.

@en

PHEX gene mutations and genoty ...... with hypophosphatemic rickets.

@nl

prefLabel

PHEX gene mutations and genoty ...... with hypophosphatemic rickets.

@en

PHEX gene mutations and genoty ...... with hypophosphatemic rickets.

@nl

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JKMS.2007.22.6.981

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Journal of Korean Medical Science

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PHEX gene mutations and genoty ...... with hypophosphatemic rickets.

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P2093

Dae Yeon Cho

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Hae Ryong Song

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Hye Ran Yoon

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Jae Hyuk Yang

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Joo Won Park

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P2860

X-inactivation profile reveals extensive variability in X-linked gene expression in females

Expression and cloning of the human X-linked hypophosphatemia gene cDNA

FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene.

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

X chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets.

Disorders of phosphate metabolism--pathomechanisms and management of hypophosphataemic disorders.

A clinical and molecular genetic study of hypophosphatemic rickets in children.

X-linked hypophosphatemia: dental and histologic findings.

Approaches to microRNA discovery.

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981-986

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scholarly article

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10.3346/JKMS.2007.22.6.981

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6

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